Retrospective Analysis of Autoimmune Diseases and Immunologic Characteristics of the Adult Primary Immune Deficiency Cohort: 17 Years Experience of the Tertiary Referral Immunology Center in Turkey

Özet

Objective: Primary immunodeficiencies (PIDs) consist of genetically heterogeneous disorders. The spectrum can include infectiousdiseases, malignancy, allergy, and autoimmunity. We aimed to analyze the frequency and variety of autoimmune diseases (ADs) in PIDsand describe their clinical and laboratory features.Materials and Methods: Ninety-two patients with PID followed by Ege University Medical Faculty between 2000 and 2017 wereenrolled in this retrospective, cross-sectional study. All patients’ medical records were reviewed using the demographic information,type of PIDs and ADs, ADs-related autoantibodies, and basic and immunologic laboratory findings. ADs were diagnosed using clinicaland complementary paraclinical findings by an immunologist and/or a subspecialist related to the affected organ or system.Results: We evaluated 50 male and 42 female PID patients with a mean age of 40.92 (18-86). Twenty-nine (32 %) patients (15 females/14males) with a mean age of 43.8 (19-78) had ADs. In our study group, the most commonly detected type of PID with AD is commonvariable immune deficiency (CVID) (n=17); followed by combined immune deficiency (CID) (n=3), CTLA4 deficiency (n=2),selective IgA deficiency (sIgAD) (n=2), specific IgG subgroup deficiency (n=1), autoimmune polyglandular syndrome (APS) withhypogammaglobulinemia (n=1), dyskeratosis congenita (DC) (n=1), Osler-Rendu-Weber (ORW) syndrome with CVID-like PID (n=1),and cartilage-hair hypoplasia (CHH) (n=1). According to systematic assessments, ADs resulted in endocrinologic 14%, dermatologic10.8%, rheumatologic 9.7%, gastroenterological 9.7%, hematological 8.6%, and neurologic disorders 1%. The frequency of ADs washigher in CVID cases than other types of PIDs (p <0.05). Basic and immunologic laboratory findings of the PIDs with and without ADswere analyzed and compared; however, no statical significant difference was obtained between the groups.Conclusion: We have analyzed the frequency and variety of ADs in a adult PID cohort in Turkey. Patients presenting with multiple ADsshould be screened for having an underlying PID.