Autoimmune Manifestations among Patients with Monogenic Inbo
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The inborn errors of immunity (IEIs) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections besides other complications including autoimmune and inflammatory diseases. Researchers aimed to evaluate clinical, immunological, and molecular data of monogenic IEI patients with and without autoimmune manifestations.

Cases of monogenic IEI were retrospectively screened in the Iranian PID registry for the occurrence of autoimmunity and immune dysregulation. A questionnaire was filled for all qualified patients with monogenic defects to evaluate demographic, laboratory, clinical, and molecular data. A total of 461 monogenic IEI patients (290 male and 171 female) with a median (IQR) age of 11.0 (6.0-20.0) years were enrolled in this study

--Overall, 331 patients were born to consanguineous parents.

--Autoimmunity was reported in 92 patients with a median (IQR) age at autoimmune diagnosis of 4.0 years.

--16 patients showed autoimmune complications (mostly autoimmune cytopenia) as the first presentation of the disease.

Most of the patients with autoimmunity were diagnosed clinically with common variable immunodeficiency (42.4%).

--The frequency of sinusitis and splenomegaly was significantly higher in patients with autoimmunity than patients without autoimmunity.

--In patients with autoimmunity, the most common pathogenic variants were identified in LRBA (in 21 patients), ATM (in 13 patients), and BTK (in 9 patients) genes.

--In the evaluation of autoimmunity by different genes, 4 of 4 IL10RB, 3 of 3 AIRE, 21 of 30 LRBA mutated genes had the highest prevalence of autoimmunity.

Finally, autoimmune manifestations are common among patients with monogenic IEI and are linked to a more complicated disease path. As a result, when dealing with autoimmune disorders, especially dysgammaglobulinemia, next-generation sequencing should be used to identify responsible genes for immune dysregulation at an early stage of the disease.