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Primary immunodeficiency diseases (PID) are associated with hematologic complications such autoimmune hemolytic anemia (AIHA) and thrombocytopenia (ITP). The most common autoimmune cytopenia is ITP. Although ITP is observed in 7.6% of patients with PID, AIHA is seen at 4.8%. Also, we aimed to present the patients who had autoimmune cytopenias and PID.

Fifty six PID patients who were followed at the Pediatric Immunology Department of Erciyes University Medical Faculty (they were analyzed genetically) were evaluated retrospectively. Autoimmune cytopenias such as ITP and AIHA were detected in 9 (%16. 07) of the patients (combined immunodeficiency:4 patients, common variable immunodeficiency: 2 patients, hyper immunoglobulin E syndrome:1 patient, X-linked lymphoproliferative :1 patient, chronic granulomatous disease:1 patient). ITP was detected in 8 of 9 patients and AIHA was also detected in 6 patients. In four patients (LRBA deficiency: 2 patients, hyper IgE syndrome:1 patient and CGD:1patient), both ITP and AIHA were observed. Immunosuppressive therapy with steroid, cyclosporine, mycophenolate mofetyl and intravenous immunoglobulin were given to all patients. Bone marrow transplantation was performed to the four patients. However, five patients died because of immunodeficiency.

There is a paradoxal situation between PID and autoimmunity. The reduction of central and peripheral tolerance is held responsible for autoimmunity in PID.

As a conclusion, we wanted to point out autoimmune cytopenias in patients with PID and the requirement of multidisciplinary approach for treatment.