LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

severe combined immunodeficiency, DiGeorge syndrome, and severe congenital neutropenia. This report of a germline mosaicism in an additional autosomal dominant primary immunodeficiency should further raise awareness of this condition. Overall, we recommend informing family members of patients with STAT3-HIES about the possibility of mosaicism. Furthermore, genetic testing of every newborn in families with known members carrying STAT3 mutations is suggested to ensure the diagnosis of STAT3-HIES early in life. Only an early diagnosis of STAT3-HIES allows initiation of the right treatment necessary for limiting complications caused by infections and to benefit the quality of life of the individual patient.