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

Leiding, Jennifer; Okada, Satoshi; Hagin, David; Abinun, Mario; Shcherbina, Anna; Balashov, Dmitry; Kim, Vy; Ovadia, Adi; Guthery, Stephen; Pulsipher, Michael; Lilic, Desa; Devlin, Lisa; Christie, Sharon; Depner, Mark; Fuchs, Sebastian; van Royen-Kerkhof, Annet; Lindemans, Caroline; Petrovic, Aleksandra; Sullivan, Kathleen; Bunin, Nancy; Kilic, SARA; Arpaci, Fikret; de la Calle-Martin, Oscar; Martinez-Martinez, Laura; Aldave, Juan; Kobayashi, Masao; Ohkawa, Teppei; Imai, Kohsuke; Iguchi, Akihiro; Roifman, Chaim; Gennery, Andrew; Slatter, Mary; Ochs, Hans; Morio, Tomohiro; Torgerson, Troy

doi:10.1016/j.jaci.2017.03.049

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., ...Daha Fazla

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

Yayın Türü: Makale / Tam Makale
Cilt numarası: 141 Sayı: 2
Basım Tarihi: 2018
Doi Numarası: 10.1016/j.jaci.2017.03.049
Dergi Adı: The Journal of allergy and clinical immunology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Anahtar Kelimeler: Hematopoietic stem cell transplantation, chronic mucocutaneous candidiasis, signal transducer and activator of transcription, Janus kinase, gain of function, graft-versus-host disease, graft rejection, hemophagocytic lymphohistiocytosis, CHRONIC MUCOCUTANEOUS CANDIDIASIS, BONE-MARROW-TRANSPLANTATION, FUNCTION STAT1 MUTATIONS, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, COMBINED IMMUNODEFICIENCY, CLINICAL PHENOTYPE, DEFICIENCY, RUXOLITINIB, RESPONSES, UNDERLIE
Bursa Uludağ Üniversitesi Adresli: Evet

Özet

Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be mild or severe and life-threatening. Hematopoietic stem cell transplantation (HSCT) has been used in some patients with more severe symptoms to treat and cure the disorder. However, the outcome of HSCT for this disorder is not well established.