Autoimmunity in Patients with Hyper IgM Syndrome

Introduction: hyper-IgM (HIGM) syndrome is characterized by normal to increased serum IgM, as well as very low or undetectable IgG, IgA, and IgE. HIGM (also known as class-switch recombination (CSR) defects) patients indicate different clinical manifestations such as autoimmune disorders. The present study aimed to evaluate demographic data, clinical manifestation, and immunological findings in HIGM patients. Methods: Clinical features and immunological data were collected from medical records belonged to the 79 Iranian HIGM patients diagnosed in Children’s Medical Center in Iran. To compare clinical records and laboratory data, all HIGM patients were classified into two different groups as follows: patients with autoimmune disease and patients without autoimmune diseases. Results: A total of 79 patients (60 male and 19 female) with median (IQR) age of 12 years old at the time of the study were enrolled (6-22.45). Autoimmunity diseases were seen in 19 patients (23.75%, 3 females and 16 males). Among the noninfectious manifestations, the hepatomegaly and spelenomegaly were significantly higher in the patients with autoimmunity (p= 0.006), compared to the patients without autoimmunity (p=0.006). The most common autoimmune presentations among HIGM patients were ITP (32%), juvenile rheumatoid arthritis (16%), autoimmune hemolytic anemia (11%), Sclerosing cholangitis (11%), Gullain-Barré syndrome, Evans syndrome, diabetes mellitus, and chrohn s disease. Conclusions: The relationship between HIGM syndrome and autoimmunity disorders could lead to sever clinical complications. Therefore, we suggested that immunologists should be aware of this complications.