Neurological Involvement in Primary Immunodeficiencies

Kılıç Gültekin S. Ş., Köse H.

ESID 20th Biennial Meeting 2022 - Gothenburg, Sweden, Gothenburg, Sweden, 12 - 16 October 2022, vol.1, no.1, pp.1

  • Publication Type: Conference Paper / Full Text
  • Volume: 1
  • City: Gothenburg
  • Country: Sweden
  • Page Numbers: pp.1
  • Bursa Uludag University Affiliated: Yes


Neurological Involvement in Primary Immunodeficiencies


Hulya Kose1, Zuhal Karali1, Sukru Cekic1 Sara Sebnem Kilic 1*

1Department of Pediatric Immunology and Rheumatology, Bursa Uludag University, Turkey

*Presenting author


Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders of the immune system characterized by recurrent infections, allergies, autoimmunity, and malignancies. Neurologic manifestations are one of the main features of some immunodeficiency syndromes, such as Ataxia-Telangiectasia (AT) and Purine Nucleoside Phosphorylase Deficiency (PNP) as considered primary involvement1. The aim of this study is to reveal the neurological manifestations in patients with PID.


A retrospective analysis was evaluated of patients followed up with PID by the department of Pediatric Immunology between January 2015 and January 2021.

A hundred-seven patients who had neurological complaints were included in the study. Neurological findings were classified on the basis of anatomic involvement by evaluating the physical examination and cranial magnetic resonance imaging(MRI) tests of the patients.  If neurological findings occurred as a result of the natural course of PID, it was accepted as primary involvement. Neurological findings occurring after infection and/or accompanying autoimmune disease were defined as secondary involvement. Structural or anatomical variants were classified as unknown or coincidental.


The female/male ratio was 48/57, the median age: 11 years (min=1 max=60), the median follow-up time was 72 months (min=7, max=240). The most common findings were; cognitive delay (n=62, 59%), epilepsy (n=23, 24.8%) and ataxia (n=20, 18%) respectively. Cranial MRI was abnormal in 80.4% (n=78) of the patients. Primary involvement was detected in 52% (n=48,5), secondary involvement was found in 20.8% (n=20), and structural or anatomical variants were founded in 16.7% (n=16) of the patients. Intracranial pathologies were grouped based on the anatomical location of MRI findings in the gray matter (n=6, 6.3%), the white matter (n=27, 28.4%), the pituitary gland (n=3, 3.2%), hydrocephalus (n=5, 5,3%), cerebral atrophy (n=21, 22.3%), cerebellar atrophy (n=33, 30%), and intracranial hemorrhage findings (n=3, 3%).The most common clinical findings were; cognitive delay (n=62, 59%), epilepsy (n=23, 22%) and ataxia (n=20, 18%) respectively

Conclusion. The neurologic presentation may constitute the initial manifestation in certain types of PID.Early recognition and treatment is important to prevent or reduce future irreversible neurological damage. Therefore physicians should be aware of the neurological manifestations accompanying PID.