Prof.Dr. SARA ŞEBNEM KILIÇ GÜLTEKİN

Clinical cancer research : an official journal of the American Association for Cancer Research , cilt.27, sa.2, ss.575-584, 2021 (SCI-Expanded) Sürdürülebilir Kalkınma

Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings

Dusak A., Hafizoglu D., Kilic S. Ş., YAZICI Z.

ACTA RADIOLOGICA , cilt.61, sa.10, ss.1377-1387, 2020 (SCI-Expanded)

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study.

ÇEKİÇ Ş., Metin A., Aytekin C., Karaca N. E., BARIŞ S., Karali Y., et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology , cilt.31, sa.5, ss.528-536, 2020 (SCI-Expanded)

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

Lee P. Y., Kellner E. S., Huang Y., Furutani E., Huang Z., Bainter W., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , cilt.145, sa.6, ss.1664-1682, 2020 (SCI-Expanded)

Three different faces of TACI mutations.

ÇEKİÇ Ş., Cicek F., Karali Y., Gorukmez O., EREN E., Kilic S. Ş.

Scandinavian journal of immunology , cilt.91, sa.6, 2020 (SCI-Expanded)

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Tesch V. K., Abolhassani H., Shadur B., Zobel J., Mareika Y., Sharapova S., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , cilt.145, sa.5, ss.1452-1463, 2020 (SCI-Expanded)

Cancer Tendency in a Patient with ZNF341 Deficiency.

ÇEKİÇ Ş., Hartberger J. M., Frey-Jakobs S., Huriyet H., BEKTAŞ HORTOĞLU M., Neubauer J. C., et al.

Journal of clinical immunology , cilt.40, sa.3, ss.534-538, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

Epidemiological findings on Hepatitis C infection in a tertiary level hospital in mid-northern Anatolia in Turkey: A four-year analysis

Taskin M. H., Gunal O., Arslan S., Kaya B., Kilic S. Ş., Akkoyunlu G. K., et al.

TROPICAL BIOMEDICINE , cilt.37, sa.1, ss.227-236, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma

Ocular Involvement in Muckle-Wells Syndrome

ÇEKİÇ Ş., YALÇINBAYIR Ö., Kilic S. Ş.

OCULAR IMMUNOLOGY AND INFLAMMATION , cilt.28, sa.1, ss.70-78, 2020 (SCI-Expanded)

QUALITY OF LIFE ASSESSMENT IN PATIENTS WHO RECEIVES SCIG AND IVIG

ÇEKİÇ Ş., Karali Y., Cicek F., Kilic S. Ş.

ARCHIVES OF DISEASE IN CHILDHOOD , 2019 (SCI-Expanded)

Challenges in investigating patients with isolated decreased serum IgM: The SIMcal study

Janssen L. M. A., van Hout R. W. N. M., de Vries E., Pignata C., Cirillo E., Arkwright P. D., et al.

SCANDINAVIAN JOURNAL OF IMMUNOLOGY , sa.6, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

Vedolizumab treatment in a patient with X-linked agammaglobulinemia, is it safe and efficient?

ÇEKİÇ Ş., ÖZGÜR T., Karali Y., Ozkan T., Kilic S. Ş.

TURKISH JOURNAL OF PEDIATRICS , cilt.61, sa.6, ss.937-940, 2019 (SCI-Expanded) Sürdürülebilir Kalkınma

Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.

Kıykım A., Özen A. O., Özen A. O., Özen A. O., Özen A. O., Çekiç Ş., et al.

The journal of allergy and clinical immunology. In practice , cilt.7, sa.8, 2019 (SCI-Expanded)

APECED in Turkey: A case report and insights on genetic and phenotypic variability.

Fierabracci A., Pellegrino M., Frasca F., Kilic S. Ş., Betterle C.

Clinical immunology (Orlando, Fla.) , cilt.194, ss.60-66, 2018 (SCI-Expanded)

ZNF341 controls STAT3 expression and thereby immunocompetence.

Frey-Jakobs S., Hartberger J. M., Fliegauf M., Bossen C., Wehmeyer M. L., Neubauer J. C., et al.

Science immunology , cilt.3, sa.24, 2018 (SCI-Expanded)

The evaluation of malignancies in Turkish PID patients; A multicenter study

ÇEKİÇ Ş., Aytekin C., Metin A., KARACA N., Demirkaya M., Sevinir B., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.38, sa.3, ss.409-410, 2018 (SCI-Expanded)

Dual Cancer in a Patient with ZNF341 Deficiency

Kilic S. Ş., ÇEKİÇ Ş., Grimbacher B.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.38, sa.3, ss.358, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Leiding J. W., Okada S., Hagin D., Abinun M., Shcherbina A., Balashov D. N., et al.

The Journal of allergy and clinical immunology , cilt.141, sa.2, 2018 (SCI-Expanded)

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

Petersen B., August D., Abt R., Alddafari M., Atarod L., BARIŞ S., et al.

INFLAMMATORY BOWEL DISEASES , cilt.23, sa.12, ss.2109-2120, 2017 (SCI-Expanded) Sürdürülebilir Kalkınma

Delayed Puberty and Gonadal Failure in Patients with HAX1 Mutation

ÇEKİÇ Ş., SAĞLAM H., Gorukmez O., Yakut T., Tarim Ö. F., Kilic S. Ş.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.37, sa.6, ss.524-528, 2017 (SCI-Expanded)

Is colchicine more effective to prevent periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis episodes in Mediterranean fever gene variants?

Gunes M., ÇEKİÇ Ş., Kilic S. Ş.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.59, sa.6, ss.655-660, 2017 (SCI-Expanded)

Saliva/serum ghrelin, obestatin and homocysteine levels in patients with ischaemic heart disease

Kilic N., Dagli N., Aydin S., Erman F., Bek Y., Akin O., et al.

CARDIOVASCULAR JOURNAL OF AFRICA , cilt.28, sa.3, ss.159-164, 2017 (SCI-Expanded)

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

Cantaert T., Schickel J., Bannock J. M., Ng Y., Massed C., Delmotte F. R., et al.

The Journal of clinical investigation , cilt.126, sa.11, ss.4289-4302, 2016 (SCI-Expanded)

ECONOMIC BURDEN OF PRIMARY IMMUNODEFICIENCY (PIDD) IN TURKEY

Malhan S., Ikinciogullari A., Dogu F., Kilic S. Ş., Kutukculer N., Reisli I., et al.

VALUE IN HEALTH , cilt.19, sa.7, 2016 (SCI-Expanded)

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Walne A. J., Collopy L., Cardoso S., Ellison A., Plagnol V., ALBAYRAK C., et al.

Haematologica , cilt.101, sa.10, ss.1180-1189, 2016 (SCI-Expanded)

CNS Manifestations of Patients with Muckle-Wells Syndrome

Kilic S. Ş., ÇEKİÇ Ş., Arostegui J.

ARTHRITIS & RHEUMATOLOGY , cilt.68, 2016 (SCI-Expanded)

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene iscovery

Scott E. M., Halees A., Itan Y., Spencer E. G., He Y., Azab M. A., et al.

NATURE GENETICS , cilt.48, sa.9, ss.1071-1079, 2016 (SCI-Expanded)

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4(+) T cells into distinct effector subsets

Ma C. S., Wong N., Rao G., Nguyen A., Avery D. T., Payne K., et al.

JOURNAL OF EXPERIMENTAL MEDICINE , cilt.213, sa.8, ss.1589-1608, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma

Massive ascites in a canakinumab resistant case with MVA leading to bone marrow transplantation.

ERDÖL Ş., ÇEKİÇ Ş., Kilic S. C., SAĞLAM H., Kilic S. Ş.

Rheumatology international , cilt.36, sa.7, ss.1011-3, 2016 (SCI-Expanded)

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Elkaim E., Neven B., Bruneau J., Mitsui-Sekinaka K., Stanislas A., Heurtier L., et al.

The Journal of allergy and clinical immunology , cilt.138, sa.1, 2016 (SCI-Expanded)

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Toubiana J., Okada S., Hiller J., Oleastro M., Lagos Gomez M., Aldave Becerra J. C., et al.

Blood , cilt.127, sa.25, ss.3154-64, 2016 (SCI-Expanded)

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

Belkadi A., Pedergnana V., Cobat A., Itan Y., Vincent Q. B., Abhyankar A., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.113, sa.24, ss.6713-6718, 2016 (SCI-Expanded)

Iloprost treatment in pediatric patients with complicated Raynaud's phenomenon.

ÇEKİÇ Ş., Kilic S. Ş.

Lupus , cilt.25, sa.5, ss.558-60, 2016 (SCI-Expanded)

Juvenile Idiopathic Inflammatory Myopathy in a Patient With Dyskeratosis Congenita Due to C16orf57 Mutation.

Kilic S. Ş., ÇEKİÇ Ş.

Journal of pediatric hematology/oncology , cilt.38, sa.2, 2016 (SCI-Expanded)

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance

Cantaert T., Schickel J., Bannock J. M., Ng Y., Massad C., Oe T., et al.

IMMUNITY , cilt.43, sa.5, ss.884-895, 2015 (SCI-Expanded)

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

Ma C. S., Wong N., Rao G., Avery D. T., Torpy J., Hambridge T., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , cilt.136, sa.4, ss.993-1007, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins A. Y., Ciancanelli M. J., Okada S., Kong X., Ramirez-Alejo N., Kilic S. Ş., et al.

The Journal of experimental medicine , cilt.212, sa.10, ss.1641-62, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

Engelhardt K. R., Gertz M. E., Keles S., Schaeffer A. A., Sigmund E. C., Glocker C., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , cilt.136, sa.2, ss.402-412, 2015 (SCI-Expanded)

Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis

Wolska-Kusnierz B., Gregorek H., Chrzanowska K., Piatosa B., Pietrucha B., Heropolitanska-Pliszka E., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.35, sa.6, ss.538-549, 2015 (SCI-Expanded)

RITUXIMAB TREATMENT IN PATIENTS WITH IDIOPATHIC SCLEROSING ORBITAL INFLAMMATION

Kilic S. Ş., Yazici B.

ANNALS OF THE RHEUMATIC DISEASES , cilt.74, ss.1238, 2015 (SCI-Expanded)

Mannose-Binding Lectin Gene Polymorphism and Chronic Hepatitis B Infection in Children

Erdemir G., ÖZKAN T. M., ÖZGÜR T., BUDAK F., Kilic S. Ş., ONAY H.

SAUDI JOURNAL OF GASTROENTEROLOGY , cilt.21, sa.2, ss.84-89, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Boisson-Dupuis S., Bustamante J., El-Baghdadi J., Camcioglu Y., Parvaneh N., El Azbaoui S., et al.

IMMUNOLOGICAL REVIEWS , cilt.264, sa.1, ss.103-120, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

Aydin S. E., Kilic S. Ş., Aytekin C., Kumar A., Porras O., Kainulainen L., et al.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.35, sa.2, ss.189-198, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma

Orf Infection in a Patient with Stat1 Gain-of-Function

Kilic S. Ş., Puel A., Casanova J.

JOURNAL OF CLINICAL IMMUNOLOGY , cilt.35, sa.1, ss.80-83, 2015 (SCI-Expanded)

The European Society for Immunodeficiencies (ESID) registry 2014

Grimbacher B.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY , cilt.178, ss.18-20, 2014 (SCI-Expanded)

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

Schatorje E. J. H., Gathmann B., van Hout R. W. N. M., de Vries E.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY , cilt.176, sa.3, ss.387-393, 2014 (SCI-Expanded)

BCG vaccination in patients with severe combined immunodeficiency: complications, risks, and vaccination policies.

Marciano B. E., Huang C., Joshi G., Rezaei N., Carvalho B. C., Allwood Z., et al.

The Journal of allergy and clinical immunology , cilt.133, sa.4, ss.1134-41, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation

Hennig C., Ilginus C., Boztug K., Skokowa J., Marodi L., Szaflarska A., et al.

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY , cilt.133, sa.1, ss.172-190, 2014 (SCI-Expanded) Sürdürülebilir Kalkınma

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients.

KÖKER M. Y., Camcioglu Y., van Leeuwen K., Kilic S. Ş., Barlan I., YILMAZ M., et al.

The Journal of allergy and clinical immunology , cilt.132, sa.5, 2013 (SCI-Expanded)

Human CD3γ, but not CD3δ, haploinsufficiency differentially impairs γδ versus αβ surface TCR expression.

Munoz-Ruiz M., Perez-Flores V., Garcillan B., Guardo A. C., Mazariegos M. S., Takada H., et al.

BMC immunology , cilt.14, ss.3, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma

The prevalences [correction] and patient characteristics of primary immunodeficiency diseases in Turkey--two centers study.

Kilic S. Ş., Ozel M., Hafizoglu D., Karaca N. E., AKSU G., KÜTÜKÇÜLER N.

Journal of clinical immunology , cilt.33, sa.1, ss.74-83, 2013 (SCI-Expanded)

Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency.

Kilic S. Ş., van Wengen A., de Paus R. A., ÇELEBİ S., Meziane B., Hafizoglu D., et al.

The Journal of infection , cilt.65, sa.6, ss.568-72, 2012 (SCI-Expanded)

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

Patel K., Akhter J., Kobrynski L., Gathman B., Davis O., Sullivan K. E.

JOURNAL OF PEDIATRICS , cilt.161, sa.5, ss.950-954, 2012 (SCI-Expanded)

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

Kilic S. Ş., Hacimustafaoglu M. K., Boisson-Dupuis S., Kreins A. Y., Grant A. V., Abel L., et al.

The Journal of pediatrics , cilt.160, sa.6, ss.1055-7, 2012 (SCI-Expanded)

Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasis

Depner M., Wanders J., Stauss H., Jansson A., Dueckers G., Niehues T., et al.

MYCOSES , cilt.55, ss.319, 2012 (SCI-Expanded)

Value of serum and bronchoalveolar fluid lavage pro- and anti-inflammatory cytokine levels for predicting bronchopulmonary dysplasia in premature infants.

Koksal N., Kayik B., Cetinkaya M., ÖZKAN H., BUDAK F., Kilic S. Ş., et al.

European cytokine network , cilt.23, sa.2, ss.29-35, 2012 (SCI-Expanded)

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

Ma C. S., Avery D. T., Chan A., Batten M., Bustamante J., Boisson-Dupuis S., et al.

Blood , cilt.119, sa.17, ss.3997-4008, 2012 (SCI-Expanded)

Chronic inflammatory demyelinating polyneuropathy in common variable immunodeficiency.

Ozdemir O., OKAN M. S., Kilic S. Ş.

Pediatric neurology , cilt.46, sa.4, ss.260-2, 2012 (SCI-Expanded)

Serum mannose-binding lectin (MBL) gene polymorphism and low MBL levels are associated with neonatal sepsis and pneumonia.

Ozkan H., Koksal N., Cetinkaya M., Kilic S. Ş., Celebi S., ORAL H. B., et al.

Journal of perinatology : official journal of the California Perinatal Association , cilt.32, sa.3, ss.210-7, 2012 (SCI-Expanded)

The European internet-based patient and research database for primary immunodeficiencies: update 2011 (Retracted article. See vol. 169, pg. 70, 2012)

Gathmann B., Binder N., Ehl S. Ş., Kindle G.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY , cilt.167, sa.3, ss.479-491, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.

Grant A. V., Boisson-Dupuis S., Herquelot E., de Beaucoudrey L., Filipe-Santos O., Nolan D. K., et al.

Journal of medical genetics , cilt.48, sa.8, ss.567-71, 2011 (SCI-Expanded)

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Liu L., Okada S., Kong X., Kreins A. Y., Cypowyj S., Abhyankar A., et al.

The Journal of experimental medicine , cilt.208, sa.8, ss.1635-48, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans

Meyers G., Ng Y., Bannock J. M., Lavoie A., Walter J. E., Notarangelo L. D., et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , cilt.108, sa.28, ss.11554-11559, 2011 (SCI-Expanded)

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome.

Mazza C., Buzi F., Ortolani F., Vitali A., Notarangelo L. D., Weber G., et al.

Clinical immunology (Orlando, Fla.) , cilt.139, sa.1, ss.6-11, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

Effect of amino acid substitutions in the human IFN-γR2 on IFN-γ responsiveness.

de Paus R. A., Kilic S. Ş., van Dissel J. T., van de Vosse E.

Genes and immunity , cilt.12, sa.2, ss.136-44, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

The use of complementary and alternative medicine in patients with common variable immunodeficiency.

Karali Y., Saglam H., Karali Z., Kilic S. Ş.

Journal of investigational allergology & clinical immunology , cilt.21, sa.6, ss.480-3, 2011 (SCI-Expanded)

Autoimmunity and hepatitis A vaccine in children.

Karali Z., Basaranoglu S. T., Karali Y., ORAL H. B., Kilic S. Ş.

Journal of investigational allergology & clinical immunology , cilt.21, sa.5, ss.389-93, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma

Leukocytoclastic vasculitis in patients with severe congenital neutropenia.

Kilic S. Ş., Mustafayeva S., Ipek K., BALABAN ADIM Ş.

Journal of tropical pediatrics , cilt.56, sa.5, ss.359-62, 2010 (SCI-Expanded)

Central control of body temperature by the osteoclast differentiation factors RANK/RANK

Hanada R., Leibbrandt A., Kitaoka S., Furuyashiki T., Fujihara H., Trichereau J., et al.

ENDOCRINE JOURNAL , cilt.57, 2010 (SCI-Expanded)

Prompt recovery of recipient hematopoiesis after two consecutive haploidentical peripheral blood SCTs in a child with leukocyte adhesion defect III syndrome.

Elhasid R., Kilic S. Ş., Ben-Arush M., Etzioni A., Rowe J. M.

Bone marrow transplantation , cilt.45, sa.2, ss.413-4, 2010 (SCI-Expanded)

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Woellner C., Gertz E. M., Schaeffer A. A., Lagos M., Perro M., Glocker E., et al.

The Journal of allergy and clinical immunology , cilt.125, sa.2, 2010 (SCI-Expanded)

Transfusion-Associated Graft-Versus-Host Disease in Severe Combined Immunodeficiency

Kilic S. Ş., Kavurt S., Adim Ş.

JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY , sa.2, ss.153-156, 2010 (SCI-Expanded)

Toll-like receptor-9 gene polymorphism in common variable immunodeficiency.

Tanir S., Karkucak M., Yakut T., Kilic S. Ş.

Journal of investigational allergology & clinical immunology , cilt.20, sa.3, ss.267-8, 2010 (SCI-Expanded)

**Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration.**

Giambra V., Cianci R., Lolli S., Mattioli C., Tampella G., Cattalini M., et al.

Journal of immunology (Baltimore, Md. : 1950) , cilt.183, sa.12, ss.8280-5, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

Periodic fever accompanied by aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA syndrome) Periyodik ateş, aftöz stomatit, farenjit, servikal adenit sendromu (PFAPA sendromu)

Zengin A., KILIÇ GÜLTEKİN S. Ş.

Guncel Pediatri , cilt.7, sa.3, ss.147-150, 2009 (SCI-Expanded)

Central control of fever and female body temperature by RANKL/RANK.

Hanada R., Leibbrandt A., Hanada T., Kitaoka S., Furuyashiki T., Fujihara H., et al.

Nature , cilt.462, sa.7272, ss.505-9, 2009 (SCI-Expanded)

Selective IgA deficiency and common variable immunodeficiency IgA eksikliǧi ve yaygin deǧişken i̇mmün yetmezlik

Kamber K., KARALI Z., KILIÇ GÜLTEKİN S. Ş.

Guncel Pediatri , cilt.7, sa.2, ss.90-95, 2009 (SCI-Expanded)

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.

Rotthier A., Baets J., De Vriendt E., Jacobs A., Auer-Grumbach M., Levy N., et al.

Brain : a journal of neurology , cilt.132, sa.Pt 10, ss.2699-711, 2009 (SCI-Expanded)

Loss of Kindlin-3 in LAD-III eliminates LFA-1 but not VLA-4 adhesiveness developed under shear flow conditions.

Manevich-Mendelson E., Feigelson S. W., Pasvolsky R., Aker M., Grabovsky V., Shulman Z., et al.

Blood , cilt.114, sa.11, ss.2344-53, 2009 (SCI-Expanded)

The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008

Gathmann B., Grimbacher B., Beaute J., Dudoit Y., Mahlaoui N., Fischer A., et al.

CLINICAL AND EXPERIMENTAL IMMUNOLOGY , cilt.157, ss.3-11, 2009 (SCI-Expanded) Sürdürülebilir Kalkınma

Humoral immunodeficiency in congenital insensitivity to pain with anhidrosis.

Kilic S. Ş., Ozturk R., Sarisozen B., Rotthier A., Baets J., Timmerman V.

Neurogenetics , cilt.10, sa.2, ss.161-5, 2009 (SCI-Expanded)

Primary B cell immunodeficiencies: comparisons and contrasts.

Conley M. E., Dobbs A. K., Farmer D. M., Kilic S. Ş., Paris K., Grigoriadou S., et al.

Annual review of immunology , cilt.27, ss.199-227, 2009 (SCI-Expanded)

The clinical spectrum of leukocyte adhesion deficiency (LAD) III due to defective CalDAG-GEF1.

Kilic S. Ş., Etzioni A.

Journal of clinical immunology , cilt.29, sa.1, ss.117-22, 2009 (SCI-Expanded)

Hematopoietic stem cell transplantation in a CD3 gamma-deficient infant with inflammatory bowel disease.

Oezguer T. T., Asal G. T., Cetinkaya D., Orhan D., Kilic S. Ş., Usta Y., et al.

Pediatric transplantation , cilt.12, sa.8, ss.910-3, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma

Kindlin-3: a new gene involved in the pathogenesis of LAD-III

Mory A., Feigelson S. W., Yarali N., Kilic S. Ş., BAYHAN G. İ., Gershoni-Baruch R., et al.

BLOOD , cilt.112, sa.6, ss.2591, 2008 (SCI-Expanded)

Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.

Guerrini M. M., Sobacchi C., Cassani B., Abinun M., Kilic S. Ş., Pangrazio A., et al.

American journal of human genetics , cilt.83, sa.1, ss.64-76, 2008 (SCI-Expanded) Sürdürülebilir Kalkınma

Toll-like receptor stimulation induces higher TNF-alpha secretion in peripheral blood mononuclear cells from patients with hyper IgE syndrome.

Yeganeh M., Henneke P., Rezaei N., Ehl S., Thiel D., Matamoros N., et al.

International archives of allergy and immunology , cilt.146, sa.3, ss.190-4, 2008 (SCI-Expanded)

A novel mutation of the SLC39A4 gene causing acrodermatitis enteropathica.

Kilic S. Ş., Giraud M., Schmitt S., Bezieau S., Kury S.

The British journal of dermatology , cilt.157, sa.2, ss.386-7, 2007 (SCI-Expanded)

A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets.

Pasvolsky R., Feigelson S. W., Kilic S. Ş., Simon A. J., Tal-Lapidot G., Grabovsky V., et al.

The Journal of experimental medicine , cilt.204, sa.7, ss.1571-82, 2007 (SCI-Expanded)

Schimke immunoosseous dysplasia: suggestions of genetic diversity.

Clewing J. M., Fryssira H., Goodman D., Smithson S. F., Sloan E. A., Lou S., et al.

Human mutation , cilt.28, sa.3, ss.273-83, 2007 (SCI-Expanded)

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Recio M. J., Moreno-Pelayo M. A., Kilic S. Ş., Guardo A. C., Sanal O., Allende L. M., et al.

Journal of immunology (Baltimore, Md. : 1950) , cilt.178, sa.4, ss.2556-64, 2007 (SCI-Expanded) Sürdürülebilir Kalkınma

Immunoglobulin enhancer HS1,2 polymorphism: a new powerful anthropogenetic marker.

Giambra V., Martinez-Labarga C., Giufre M., Modiano D., Simpore J., Gisladottir B. K., et al.

Annals of human genetics , cilt.70, sa.Pt 6, ss.946-50, 2006 (SCI-Expanded) Sürdürülebilir Kalkınma

Case 1: A small girl with a bird-like face.

Kilic S. Ş.

Acta paediatrica (Oslo, Norway : 1992) , cilt.95, sa.11, ss.1505-8, 2006 (SCI-Expanded)

Interferon-alpha treatment of molluscum contagiosum in a patient with hyperimmunoglobulin E syndrome.

Kilic S. Ş., Kilicbay F.

Pediatrics , cilt.117, sa.6, 2006 (SCI-Expanded)

FISH investigation of 22q11.2 deletion in patients with immunodeficiency and/or cardiac abnormalities.

Yakut T., Kilic S. Ş., Cil E., Yapici E., Egeli Ü.

Pediatric surgery international , cilt.22, sa.4, ss.380-3, 2006 (SCI-Expanded)

Cardiac thrombus in Omenn syndrome.

Kilic S. Ş., Cil E., Meral A., Villa A.

Pediatric cardiology , cilt.26, sa.5, ss.694-7, 2005 (SCI-Expanded)

The efficacy of immunoglobulin replacement therapy in the long-term follow-up of the B-cell deficiencies (XLA, HIM, CVID).

Bayrakci B., Ersoy F., Sanal O., Kiliç S. Ş., Metin A., Tezcan I.

The Turkish journal of pediatrics , cilt.47, sa.3, ss.239-46, 2005 (SCI-Expanded)

Association of migraine-like headaches with Schimke immuno-osseous dysplasia.

Kilic S. Ş., Donmez O., Sloan E., Elizondo L., Huang C., Andre J., et al.

American journal of medical genetics. Part A , cilt.135, sa.2, ss.206-10, 2005 (SCI-Expanded)

Anti-tumour necrosis factor-alpha treatment of juvenile idiopathic arthritis in a patient with common variable immunodeficiency.

Kilic S. Ş.

Journal of tropical pediatrics , cilt.51, sa.3, ss.194-5, 2005 (SCI-Expanded)

Vitamin a deficiency in patients with common variable immunodeficiency.

Kilic S. Ş., Kezer E., Ilcol Y., Yakut T., Aydin S., Ulus I.

Journal of clinical immunology , cilt.25, sa.3, ss.275-80, 2005 (SCI-Expanded)

To the editor

Morini F., Pacilli M.

JOURNAL OF PEDIATRIC SURGERY , cilt.39, sa.8, ss.1301, 2004 (SCI-Expanded)

To the editor - Reply

Kilic S. Ş.

JOURNAL OF PEDIATRIC SURGERY , cilt.39, sa.8, ss.1301-1302, 2004 (SCI-Expanded)

Pulmonary involvement in a patient with dyskeratosis congenita.

Kilic S. Ş., Kose H., Ozturk H.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.45, sa.6, ss.740-2, 2003 (SCI-Expanded)

Esophageal atresia and tracheo-esophageal fistula in a patient with Digeorge syndrome.

Kilic S. Ş., Gurpinar A. N., Yakut T., Egeli Ü., Dogruyol H.

Journal of pediatric surgery , cilt.38, sa.8, 2003 (SCI-Expanded)

Immunoglobulin subclasses and HLA alleles in immunoglobulin A deficiency.

Kilic S. Ş., Oral H. B., Budak F., Aydoğdu H., Yavaşcaoğlu B., Göral G.

Indian journal of pediatrics , cilt.70, sa.5, ss.389-92, 2003 (SCI-Expanded)

Osteochondritis dissecans in a patient with hyperimmunoglobulin E syndrome.

Kiliç S. Ş., Sanal O., Tezcan I., Ersoy F.

The Turkish journal of pediatrics , cilt.44, sa.4, ss.357-9, 2002 (SCI-Expanded)

Osteochondritis dissecans in a patient with hyperimmunoglobulin E syndrome

Kilic S. Ş., Sanal O., Tezcan I., Ersoy F.

TURKISH JOURNAL OF PEDIATRICS , cilt.44, sa.4, ss.357-359, 2002 (SCI-Expanded)

Was it a case of Takayasu arteritis? Author's reply

Kilic S. Ş.

ANNALS OF THE RHEUMATIC DISEASES , cilt.61, sa.7, ss.669, 2002 (SCI-Expanded)

Takayasu arteritis

Kilic S. Ş., Bostan O., Cil E.

ANNALS OF THE RHEUMATIC DISEASES , cilt.61, sa.1, ss.92-93, 2002 (SCI-Expanded)

Takayasu arteritis.

Sebnem Kilic S. Ş., Bostan Ö. M., Cil E.

Annals of the rheumatic diseases , cilt.61, sa.1, ss.92-3, 2002 (SCI-Expanded)

Common variable immunodeficiency in a patient with neurofibromatosis.

Kilic S. Ş., Tezcan I., Sanal O., Ersoy F.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.43, sa.6, ss.691-3, 2001 (SCI-Expanded)

Henoch-Schonlein purpura in Wiskott-Aldrich syndrome

Duzova A., Topaloglu R., Sanal O., Kilic S. Ş., Mazza C., Besbas N., et al.

PEDIATRIC NEPHROLOGY , cilt.16, sa.6, ss.500-502, 2001 (SCI-Expanded)

Low dose cyclosporin A treatment in generalized pustular psoriasis.

Kilic S. Ş., Hacimustafaoglu M. K., Celebi S., Karadeniz A., Ildirim I.

Pediatric dermatology , cilt.18, sa.3, ss.246-8, 2001 (SCI-Expanded) Sürdürülebilir Kalkınma

Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases.

Kilic S. Ş., Tezcan I., Sanal O., Metin A., Ersoy F.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.42, sa.6, ss.647-50, 2000 (SCI-Expanded)

Dermatomyositis-like syndrome in a patient with X-linked agammaglobulinemia

KILIÇ GÜLTEKİN S. Ş., Ersoy F., Sanal O., Tezcan I.

Turkish Journal of Immunology , cilt.4, sa.1, ss.25-27, 1999 (SCI-Expanded)

Successful bone marrow transplantation in a case of Griscelli disease which presented in accelerated phase with neurological involvement

Tezcan I., Sanal O., Ersoy F., Uckan D., Kilic S. Ş., Metin A., et al.

BONE MARROW TRANSPLANTATION , cilt.24, sa.8, ss.931-933, 1999 (SCI-Expanded)

Psoriasis in a patient with neurofibromatosis.

Celebi S., Kilic S. Ş., Okan M.

The Turkish journal of pediatrics , cilt.41, sa.4, ss.545-9, 1999 (SCI-Expanded)

Alopecia universalis in a patient with common variable immunodeficiency

Kilic S. Ş., Ersoy F., Sanal O., Turkbay D., Tezcan I.

PEDIATRIC DERMATOLOGY , cilt.16, sa.4, ss.305-307, 1999 (SCI-Expanded)

Allogeneic bone marrow transplantation for children with severe combined immunodeficiency (SCID).

Tezcan I., Ersoy F., Sanal O., Uckan D., Kilic S. Ş., Cetin M., et al.

BONE MARROW TRANSPLANTATION , cilt.23, 1999 (SCI-Expanded)

Serum prolactin in neonatal seizures.

Kilic S. Ş., Tarim Ö. F., Eralp O.

Pediatrics international : official journal of the Japan Pediatric Society , cilt.41, sa.1, ss.61-4, 1999 (SCI-Expanded)

Systemic candidiasis with acute Epstein-Barr virus infection.

Hacimustafaoglu M. K., Ener B., Tarim Ö. F., Kilic S. Ş., Tanritanir A., Ildirim I.

Acta paediatrica (Oslo, Norway : 1992) , cilt.86, sa.11, ss.1267-70, 1997 (SCI-Expanded) Sürdürülebilir Kalkınma

Diğer Dergilerde Yayınlanan Makaleler

Psychiatric Comorbidities in Children with Primary Immunodeficiency: A Randomized-Controlled Study

KÖSE H., ERAY ÇAMLI Ş., TURAN S., KILIÇ GÜLTEKİN S. Ş.

Türkiye Klinikleri Pediatri Dergisi , cilt.32, 2023 (Scopus)

Mevalonic Aciduria Presenting with Recurrent Perianal Fistulas

Köse H., Çekiç Ş., Temel Ş. G., Özemri Sağ Ş., Kılıç Gültekin S. Ş.

Türkiye Klinikleri Journal of Case Reports , cilt.30, sa.2, ss.136-141, 2022 (Hakemli Dergi)

Nadir Görülen Bir Primer İmmün Yetersizlik: Ligaz 4 Sendromu

KARALI Z., KILIÇ GÜLTEKİN S. Ş.

Klinik Tıp Pediatri , 2021 (Hakemli Dergi)

Romatolojik Hastalıkların Doğuştan Kusurları

KARALI Z., KILIÇ GÜLTEKİN S. Ş.

Klinik tıp pediatri , cilt.-1, 2021 (Hakemli Dergi)

Evaluation of pulmonary findings in patients with humoral immunodeficiency

Karali Z., Karali Y., ÇEKİÇ Ş., YAZICI Z., CANITEZ Y., SAPAN N., et al.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS , cilt.55, sa.2, ss.174-183, 2020 (ESCI)

Evaluation of pulmonary findings in patients with humoral immune deficiency

karalı z., KARALI Y., ÇEKİÇ Ş., CANITEZ Y., YAZICI Z., SAPAN N., et al.

Türk Pediatri Arşivi , 2020 (ESCI)

Siklik Nötropeni ve Konjenital Nötropeni(Kostmann Hastal›¤›)

KILIÇBAY F., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI , sa.2, ss.64-68, 2020 (ESCI)

Evaluation of Patients with Systemic onset Juvenile Idiopathic Arthritis

ÇEKİÇ Ş., Karali Y., Kilic S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , sa.2, ss.279-289, 2019 (ESCI) Sürdürülebilir Kalkınma

Sistemik başlangıçlı juvenil idiyopatik artrit tanılı olguların değerlendirilmesi

ÇEKİÇ Ş., KARALI Y., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.17, ss.279-289, 2019 (Scopus)

Retrospective view of primary Raynaud's phenomenon in childhood.

Turan E., Kilic S. Ş.

Reumatologia clinica , cilt.15, sa.6, 2019 (Scopus) Sürdürülebilir Kalkınma

Sendromik Özelliklerle İlişkili Kombine İmmün Yetmezlikler

ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

türkiye klinikleri , cilt.10, sa.2, ss.104-114, 2017 (Hakemli Dergi)

TNFRSF11A RANK Gen Mutasyonu Saptanan BirAilede Prenatal Tanı Bir Olgu Sunumu

KARKUCAK M., HAFIZOĞLU D., ÖZEMRİ SAĞ Ş., TANIR BAŞARANOĞLU S., GÖRÜKMEZ O., KILIÇ GÜLTEKİN S. Ş., et al.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.12, sa.2, ss.123-126, 2014 (Scopus)

Hyperimmunglobulin M Syndrome

Gülcan Ü., ÇEKİÇ Ş., Gültekin Sara K.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.12, sa.2, ss.81-87, 2014 (ESCI)

Besin Allerjileri

ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

Klinik Tıp Pediatri , 2014 (Hakemli Dergi)

Ülkemizde kronik granülomatöz hastalık tanılı olguların demografik verileri ve interferon-gama tedavisi öncesi ve sonrası klinik verilerinin karşılaştırılması

FİLİZ S., KOCACIK UYGUN D. F., sanal ö., camcıoğlu y., somer a., barlan ı., et al.

ASTIM ALLERJI IMMUNOLOJI , cilt.11, sa.3, ss.153-161, 2013 (Hakemli Dergi)

The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country

Filiz S., KOCACIK UYGUN D. F., Sanal O., Camcioglu Y., SOMER A., Barlan I., et al.

ASTIM ALLERJI IMMUNOLOJI , cilt.11, sa.3, ss.153-161, 2013 (ESCI)

PRİMER İMMÜN YETMEZLİKLİ HASTALARDAİNTRAVENÖZ İMMÜNOGLOBÜLİN TEDAVİSİNİN KASFONKSİYONLARI ÜZERİNE ETKİSİ

KILIÇ GÜLTEKİN S. Ş., AKOVA B., Özhan G.

Spor Hekimliği Dergisi , cilt.47, sa.1, ss.19-27, 2012 (Hakemli Dergi)

Periodic Fever Accompanied by Aphthous Stomatitis, Pharyngitis and Cervical Adenitis Syndrome (PFAPA Syndrome)

Zengin A., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.7, sa.3, ss.147-150, 2009 (ESCI)

Selective IgA Deficiency and Common Variable Immunodeficiency

Kamber K., Karal Z., KILIÇ S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.7, sa.2, ss.90-95, 2009 (ESCI)

Cytokine responses and CD40L expression on lymphocytes of patients with CVID and sIgAD

KILIÇ GÜLTEKİN S. Ş., KEZER E.

Clinical and Experimental Immunology 2008 Nov , 2008 (Hakemli Dergi)

Use of complementary and alternative medicine in children with humoral immune deficiency

KILIÇ GÜLTEKİN S. Ş., KEZER E.

Clinical and experimental Immunology 2008 Nov , 2008 (Hakemli Dergi)

Chediak-Higashi Syndrome

Karal Z., KILIÇ GÜLTEKİN S. Ş.

GUNCEL PEDIATRI-JOURNAL OF CURRENT PEDIATRICS , cilt.5, sa.3, ss.99-104, 2007 (ESCI)

Interleukin 10 and TGF-beta gene polymorphisms can effect granulomatous formations chronic granulomatous disease

Baştürk B., KILIÇ GÜLTEKİN S. Ş.

Gazi Medical Journal , cilt.18, sa.1, ss.15-17, 2007 (Scopus)

INTERLEUKIN 10 AND TGF-BETA GENE POLYMORPHISMS CAN EFFECT GRANULOMATOUS FORMATIONIN CHRONIC GRANULOMATOUS DISEASE

Basturk B., KILIÇ GÜLTEKİN S. Ş.

GAZI MEDICAL JOURNAL , cilt.18, sa.1, ss.15-17, 2007 (ESCI)

Omenn's syndrome

KILIÇ GÜLTEKİN S. Ş.

International Pediatrics , cilt.18, sa.1, ss.41-42, 2003 (Scopus)

Leukocyte adhesion deficiency in a case presenting as septic arthritis

KILIÇ GÜLTEKİN S. Ş.

International Pediatrics , cilt.17, sa.2, ss.96-97, 2002 (Scopus)

Juvenile rheumatoid arthritis in a patient with common variable immunodeficiency

KILIÇ GÜLTEKİN S. Ş., BOSTAN Ö. M., ÇİL E.

International Pediatrics , cilt.16, sa.2, ss.94-95, 2001 (Scopus)

Herpes simplex virus hepatitis in a patient with severe combined immunodeficiency

KILIÇ GÜLTEKİN S. Ş., Talim B., Tezcan I., Sanal O., Çaglar M., ERSOY F.

International Pediatrics , cilt.16, sa.3, ss.155-157, 2001 (Scopus) Sürdürülebilir Kalkınma

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

Recombinase activating gene defects, phenotypic diversity

ŞADIRVAN OĞUZKAYA Y. H., ÇEKİÇ Ş., YORĞUN ALTUNBAŞ M., KARALI Z., AYDINER E., ÖZEN A. O., et al.

EAACI congress, 12 Aralık 2023

Immunological and neurocognitive functions in DiGeorge syndrome

KARALI Z., ÇEKİÇ Ş., KARALI Y., KILIÇ GÜLTEKİN S. Ş.

EAACI congress, 12 Aralık 2023

Immunological and neurocognitive functions in DiGeorge syndrome

Karali Z., Cekic S., Karali Y., KILIÇ GÜLTEKİN S. Ş.

Annual Hybrid Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Hamburg, Almanya, 9 - 11 Haziran 2023

Recombinase activating gene defects, phenotypic diversity

Oguzkaya Y. S., Cekic S., Yorgun M., Karali Z., AYDINER E., Ozen A., et al.

Annual Hybrid Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Hamburg, Almanya, 9 - 11 Haziran 2023

Monitoring of immunoglobulin treatment compliance of patients with an inborn error of immunity during the pandemic

KARALI Y., KARALI Z., ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

BSACI Congress, 24 Ekim 2023

INTERFERON SIGNALIZATION IN CHILDREN WITH JUVENILE SCLERODERMA

KÖSE H., KILIÇ GÜLTEKİN S. Ş.

Pres 2023, Rotterdam, Hollanda, 28 Eylül 2023

ADA1 ve ADA2 Enzim Düzeyleri ve Aktivitesinin, COVID-19 Şiddeti Üzerindeki Etkisi

Bozkurt T., Şimşek A., Kızmaz M. A., Çağan E., Köse H., Kılıç Gültekin S. Ş., et al.

9. Klinik İmmünoloji Kongresi, Antalya, Türkiye, 1 - 04 Mayıs 2023

Juvenil Skleroderma Tanılı Çocuk Hastalarda İnterferon Gen Ekspresyonu ve Hastalık Aktivasyon İlişkisinin Araştırılması

Köse H., Şimşek A., Kızmaz M. A., Bozkurt T., Öztürk F., Budak F., et al.

19. Ulusal Uludağ Pediatri Kış Kongresi, Bursa, Türkiye, 12 - 15 Mart 2023

İmmün Disregülasyon Bulguları Olan Primer İmmün Yetmezlikli Hastalarının Özellikleri

Köse H., Kılıç Gültekin S. Ş.

8. KLİNİK İMMÜNOLOJİ KONGRESİ, Antalya, Türkiye, 26 - 29 Ekim 2022, cilt.1, sa.1, ss.1-2

LRBA ve CTLA-4 Eksikliği Olan Hastalarda CTLA-4’e Bağlı Biyolojik Kusur Düzeylerinin Karşılaştırılması

ÇATAK M. C., AKÇAM B., BİLGİÇ ELTAN S., BABAYEVA R., BAYRAM F., KARAKUŞ İ. S., et al.

8. Klinik İmmünoloji Kongresi-Antalya, 26 - 29 Ekim 2022

Relationship Interferon Signalization and Disease Activation in Patients with Juvenile Scleroderma.

Köse H., Şimşek A., Kızmaz M. A., Bozkurt T., Öztürk F., Budak F., et al.

5th International Molecular Immunology and Immunogenetics Congress, İzmir, Türkiye, 20 - 22 Ekim 2022

Recombinase activating gene defects, phenotypic diversity: Two centers’ experience from Turkey

Şadırvan Oğuzkaya Y. H., Çekiç Ş., Yorğun Altunbaş M., Karalı Z., Aydıner E., Özen A. O., et al.

20th Biennial Meeting 2022, Gothenburg, İsveç, 12 Ekim 2022

Neurocognıtıve evaluatıon of patıents wıth dıgeorge syndrome

Karalı Z., Karalı Y., Çekiç Ş., Kılıç Gültekin S. Ş.

ESID 20th Biennial Meeting 2022, Gothenburg, İsveç, 12 Ekim 2022

Neurological Involvement in Primary Immunodeficiencies

Kılıç Gültekin S. Ş., Köse H., Karalı Z., Çekiç Ş.

20th ESID Biennial Meeting 2022, Gothenburg, İsveç, 12 Ekim 2022

Can Ikaros mutation lead to intellectual disability?

Köse H., Kılıç Gültekin S. Ş.

ESID 1st PID Care in development School, Zagreb, Hırvatistan, 15 - 17 Ekim 2022, ss.1 Sürdürülebilir Kalkınma

PSYCHIATRIC COMORBIDITIES IN PEDIATRIC PRIMARY IMMUNODEFICIENCY PATIENTS

Köse H., Eray Çamlı Ş., Turan S., Kılıç Gültekin S. Ş.

World Allergy Congress (WAC) in Istanbul, Türkiye, October 13-15, 2022., İstanbul, Türkiye, 13 - 15 Ekim 2022, cilt.20, sa.3, ss.98

Neurological Involvement in Primary Immunodeficiencies

Kılıç Gültekin S. Ş., Köse H.

ESID 20th Biennial Meeting 2022 - Gothenburg, Sweden, Gothenburg, İsveç, 12 - 16 Ekim 2022, cilt.1, sa.1, ss.1

Neurological Involvement in Primary Immunodeficiencies

KÖSE H., ÇEKİÇ Ş., KARALI Z., KILIÇ GÜLTEKİN S. Ş.

the 13th Annual Meeting of the Clinical Immunology Society: 2022 Annual Meeting: Immune Deficiency and Dysregulation North American Conference, Amerika Birleşik Devletleri, 31 Mart 2022

Compliance with follow-up and adherence to İmmunoglobulin Treatment in patients with primary immunodeficiency during The Pandemic

KARALI Z., ÇEKİÇ Ş., ŞADIRVAN OĞUZKAYA Y. H., KILIÇ GÜLTEKİN S. Ş.

the 13th Annual Meeting of the Clinical Immunology Society: 2022 Annual Meeting: Immune Deficiency and Dysregulation North American Conference, Amerika Birleşik Devletleri, 31 Mart 2022

THE FİRST YEAR OF covid-19 outbreak from PID patients

ÇEKİÇ Ş., KÖSE H., KARALI Z., KILIÇ GÜLTEKİN S. Ş.

European Academy of Allergy and Clinical Immunology Hybrid Congress, 10-12 July 2021, Krakow, Polonya, 10 - 12 Temmuz 2021, Krakow, Polonya, 10 Haziran 2021, cilt.76, sa.110, ss.479 Sürdürülebilir Kalkınma

autoimmunity and inflamation in patients with PID"

KÖSE H., ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

eaaaci 2021, Krakow, Polonya, 10 Temmuz - 12 Aralık 2021, cilt.76, sa.110, ss.558, Krakow, Polonya, 16 Aralık 2021, cilt.76, sa.110, ss.558

Kronik inflamatuar deri hastalığının nedeni olarak NLRP1 eksikliği

Güler T., CÖMERT M., ŞAHİN A., Chinn I. K., Lisa R F., KILIÇ GÜLTEKİN S. Ş., et al.

28. Ulusal Allerji ve Klinik immünoloji Kongresi, 13 - 17 Ekim 2021

Primer immün yetmezlikte nörolojik tutulumlar

KÖSE H., ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

15. Uluslararası Katılımlı ÇOCUK ALERJİ VE ASTIM KONGRESİ, Türkiye, 30 Ekim 2021

Lökosit Adezyon Eksikliği Olan Hastalarda Th17 Ve Treg Hücrelerinin Karakterizasyonu

ERDEM Ş., HALİLOĞLU Y., HASKOLOĞLU Z. Ş., ARIK E., KESKİN Ö., BİLGİÇ ELTAN S., et al.

7. KLİNİK İMMÜNOLOJİ KONGRESİ, Ankara, Türkiye, 06 Ekim 2021

The evaluation of radiosensitivity in patients with STAT3 deficiency

Çekiç Ş., Huriyet H., Hortoglu M. B., Barış S., Metin A., Özen A. O., et al.

the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference, 14 Nisan 2021

Juvenil Üveitler: 3. Basamak Deneyimi

TIĞRAK S. N., ÇEKİÇ Ş., UÇAN GÜNDÜZ G., YALÇINBAYIR Ö., KILIÇ GÜLTEKİN S. Ş.

17. Uludağ Pediatri Kış Kongresi, Türkiye, 13 Mart 2021

The assessment of brain evoked potentials in patients with CAPS

ÇEKİÇ Ş., BİCAN DEMİR A., KILIÇ GÜLTEKİN S. Ş.

the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference, 11 Nisan 2021

Juvenil İdiopatik Artrit Tanılı Olguların Değerlendirilmesi

AYDEMİR F., ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

17. Uludağ Pediatri Kış Kongresi, Türkiye, 13 Mart 2021

LÖKOSİT ADEZYON DEFEKTİ TANISI ALAN HASTALARIN KLİNİK VE LABORATUVAR BULGULARININ DEĞERLENDİRİLMESİ

YAZ İ., ÖZBEK B., TAN Ç., BİLDİK H. N., OSKAY HALAÇLI S., SOYAK AYTEKİN E., et al.

6. KLİNİK İMMÜNOLOJİ KONGRESİ, Türkiye, 31 Ekim 2020

İmmün disregülasyon hastalık modeli olan LRBA ve CTLA4 eksikliği olgularında solubleCD25 ve foliküler T hücrelerin hastalık aktivitesini göstermedeki rolü

AKÇAM B., ÖĞÜLÜR İ., AKGÜN G., KARAKUŞ İ. S., CAN Y., KASAP N., et al.

6.Klinik İmmünoloji Kongresi, Türkiye, 31 Ekim 2020

Immunological evaluation of the patients with CAPS

Cekic Ş., Kilic S. Ş.

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Kanada, 6 - 08 Haziran 2020, cilt.75, ss.424

Evaluation of a patient with IKAROS gene deficiency

Cekic Ş., Kilic S. Ş.

European-Academy-of-Allergology-and-Clinical-Immunology Digital Congress (EAACI), London, Kanada, 6 - 08 Haziran 2020, cilt.75, ss.425

TOFACITINIB TREATMENT IN RECALCITRANT JDM PATIENTS

Cekic Ş., Karali Y., Cicek F., Kilic S. Ş.

Annual European Congress of Rheumatology (EULAR), ELECTR NETWORK, 03 Haziran 2020, ss.822-823

Nötropeninin Eşlik Ettiği MDA5 Eksikliği: Olgu Sunumu

İREZ S., ÇİÇEK F., ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

16. Uludağ Pediatri Kış Kongresi, Türkiye, 8 - 11 Mart 2020

TACI Mutasyonu Olan Hastaların Değerlendirilmesi

ÇEKİÇ Ş., ÇİÇEK F., KARALI Y., ELMAS E., görükmez o., TEMEL Ş. G., et al.

16. Uludağ Pediatri Kış Kongresi, Türkiye, 8 - 11 Mart 2020

SKLERODERMA TANILI OLGULARIN DEĞERLENDIRILMESITEK MERKEZ DENEYIMI

ÇEKİÇ Ş., ÇİÇEK F., Ovçiyeva L., ÖNDEŞ T., KILIÇ GÜLTEKİN S. Ş.

16. Uludağ Pediatri Kış Kongresi, Türkiye, 8 - 11 Mart 2020

Primer İmmünyetmezliklerde Radyasyon DuyarlılığınınAraştırılması

ÇEKİÇ Ş., hüriyet h., Hortoglu M. B., Abakay C. D., ÇAVAŞ T., KILIÇ GÜLTEKİN S. Ş.

16. Uludağ Pediatri Kış Kongresi, Türkiye, 8 - 11 Mart 2020

HOMOZİGOT TACI MUTASYONU OLAN İKİ VAKA TACI MUTASYONU,MİKROSEFALİ VE GELİŞME GERİLİĞİ NEDENİ OLABİLİR Mİ?

ÇİÇEK F., ÇEKİÇ Ş., KARALI Y., KILIÇ GÜLTEKİN S. Ş.

15. Uludağ Pediatri Kış Kongresi, Türkiye, 10 - 13 Mart 2019

Cerebral ischemic attacks in ADA2 deficiency treated with adalimumab

Kilic S. Ş., Cekic Ş., Karali Y.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Lisbon, Portekiz, 1 - 05 Haziran 2019, ss.828

LRBA deficiency in three patients, single center experience

ÇEKİÇ Ş., Karali Y., Kilic S. Ş.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Lisbon, Portekiz, 1 - 05 Haziran 2019, ss.825

Two cases with homozygous TACI mutation; could TACI mutation be a cause of microcephaly and growth retardation?

Kilic S. Ş., Cicek F., ÇEKİÇ Ş., Karali Y.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Lisbon, Portekiz, 1 - 05 Haziran 2019, ss.825-826

Autoimmune and inflammatory diseases in primary immune deficiencies

ÇEKİÇ Ş., Karali Y., Kilic S. Ş.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Lisbon, Portekiz, 1 - 05 Haziran 2019, ss.828-829

Treatment forms and clinical course of LPS-Responsive beige-like anchor protein deficiency and introduction of the immune deficiency and -dysregulation activity (=IDDA) score

Tesch V. K., Abolhassani H., Grimbacher B., Lankaster A., Gennery A., Shadur B., et al.

45th Annual Meeting of the European-Society-for-Blood-and-Marrow-Transplantation (EBMT), Frankfurt, Almanya, 24 - 27 Mart 2019, cilt.54, ss.98-99

CLINICAL FEATURES IN TURKISH CHILDREN WITH CHRONIC NON-BACTERIAL OSTEOMYELITIS

AÇARI C., ÇOMAK E., ÇEKİÇ Ş., Turkucar S., Dundar H. A., Kilic S. Ş., et al.

Annual European Congress of Rheumatology (EULAR), Madrid, İspanya, 12 - 15 Haziran 2019, cilt.78, ss.1997-1998

Çocuk Endokrinoloji Kliniğinde Di George Sendromu ile Takip Eidlen 11 Vakalık Seri

DENKBOY ÖNGEN Y., EREN E., Özgecan D., TARIM Ö. F., KÖKSAL F. N., BOSTAN Ö. M., et al.

15. Uudağ Pediatri Kongresi, Türkiye, 10 - 13 Mart 2019

ADA2 EKSİKLİĞİNDE ADALİMUMAB İLE TEDAVİ EDİLEN SEREBRALİSKEMİK ATAKLAR.

ÇEKİÇ Ş., KARALI Y., ÇİÇEK F., KILIÇ GÜLTEKİN S. Ş.

15. Uludağ Pediatri Kış Kongresi, Türkiye, 10 - 13 Mart 2019

KRONİK GRANÜLOMATÖZ HASTALIK TANISI ALAN İKİ OLGU

ÇİÇEK F., TURAN M., ÇEKİÇ Ş., KARALI Y., KILIÇ GÜLTEKİN S. Ş.

15. Uludağ Pediatri Kış Kongresi, Türkiye, 10 - 13 Mart 2019

Coexistence of Lymphoproliferative Syndrome, Neurofibromatosis, Systemic Lupus Erythematosus and Hyper IgM Syndrome in a Patient with MSH6 Mutation

ÇEKİÇ Ş., Karali Y., Kilic S. Ş.

Annual Meeting of the Clinical-Immunology-Society (CIS) / Immune Deficiency and Dysregulation North American Conference, Georgia, Amerika Birleşik Devletleri, 4 - 07 Nisan 2019 Sürdürülebilir Kalkınma

Kronik Granülomatöz Hastalık Ta nılı Bir Olgu Sunumu

KARALI Y., ÇİÇEK F., ÇEKİÇ Ş., ALTAY B., KILIÇ GÜLTEKİN S. Ş.

25. Ulusal Alerji ve Klinik İmmünoloji Kongresi, Türkiye, 17 - 21 Kasım 2018

Çocuklarda anti TNF- alfa kullanımına bağlı gelişen ilaç reaksiyonları

ÇEKİÇ Ş., KARALI Y., ÇİÇEK F., KILIÇ GÜLTEKİN S. Ş.

25. Ulusal Alerji ve Klinik İmmünoloji Kongresi, Türkiye, 17 - 21 Kasım 2018

Muckle Wells Sendromu Ta nılı Hastalarının Oküler ve OdiyolojikDeğerlendirilmesi

ÇEKİÇ Ş., YALÇINBAYIR Ö., KILIÇ GÜLTEKİN S. Ş.

25. Ulusal Alerji ve Klinik İmmünoloji Kongresi, Türkiye, 17 - 21 Kasım 2018

A TURKISH LRBA DEFICIENCY COHORT PROVIDING CLINICAL AND LABORATORYUTILITIES

KIYKIM A., DURSUN E., NAİN E., ÇEKİÇ Ş., ÖĞÜLÜR İ., BAŞER D., et al.

The 18th Biennial Meeting of ESID, Lizbon, Portekiz, 24 - 27 Ekim 2018

LRBA eksikliğinde CTLA-4 analoğunun (abatacept) lenfosit alt tipleri üzerine ex-vivo etkileri

KIYKIM A., ÖĞÜLÜR İ., Dursun E., YILDIRAN A., UNCUOĞLU A., KELEŞ S., et al.

İmmünolojide Moleküller Sempozyumu, İzmir, Türkiye, 18 - 21 Ekim 2018

Evaluation of patients with leukocyte adhesion deficiency, single center experience

ÇEKİÇ Ş., Kilic S. Ş.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Munich, Almanya, 26 - 30 Mayıs 2018, cilt.73, ss.456-457

Vedolizumab treatment in patient with XLA, is it safe and efficient?

ÇEKİÇ Ş., Ozgur T., Karali Y., Ozkan T., Kilic S. Ş.

Congress of the European-Academy-of-Allergy-and-Clinical-Immunology (EAACI), Munich, Almanya, 26 - 30 Mayıs 2018, ss.768-769

Lysinuric protein intolerance and HOIP deficiency in a boy: SLCA7A and RNF31 gene disruptions

Aliyeva L., ERDÖL Ş., Gorukmez O., Turkgenc B., GÜRKAN H., Yarali Y., et al.

European Biotechnology Congress, Athens, Yunanistan, 26 - 28 Nisan 2018, cilt.280

EVALUATION OF CASES DIAGNOSED WITH CRMO; SINGLE CENTRE EXPERIENCE

ÇEKİÇ Ş., Karali Y., Kilic S. Ş.

Congress of the European-League-Against-Rheumatism (EULAR), Amsterdam, Hollanda, 13 - 16 Haziran 2018, ss.1666-1667

Muckle-Wells Sendromunda Merkezi Sinir Sistemi Görüntüleme Sonuçları

ÇEKİÇ Ş., KILIÇ GÜLTEKİN S. Ş.

54. Türk Pediatri Kongresi, 6 - 09 Mayıs 2018

Pulmoner Emboli ile Başvuran Antifosfolipid Antikor Sendromu Olgusunda Rituximab Tedavisi

ÇEKİÇ Ş., KARALI Y., YİĞİT G., SEZGİN EVİM M., BAYTAN B., MERAL GÜNEŞ A., et al.

54. Türk Pediatri Kongresi, 6 - 09 Mayıs 2018

The evaluation of malignancies in Turkish PID patients A multicenter study

KÜTÜKÇÜLER N., KARACA N., AKSU G., AYTEKİN C., KILIÇ GÜLTEKİN S. Ş.

J Clin Immunology. April 2018, New York, Amerika Birleşik Devletleri, 18 - 21 Nisan 2018, cilt.38, ss.409