Abstract
Biallelic mutations in the human lipopolysaccharide responsive beige-like anchor (LRBA) gene lead to a primary immunodeficiency known as LRBA deficiency, characterized early-onset hypogammaglobulinemia, severe autoimmune manifestations, enteropathy, lymphoproliferation, and recurrent respiratory tract infections. Neonatal diabetes mellitus (NDM) has not been previously described in patients with LRBA mutations. In this study, the proband was diagnosed at 7 weeks of age with diabetes and additional autoimmunity and 3 other patients presented before 6 months of age. The other patients had diabetes onset between 6 and 12 months. Only 1 patient was positive for GAD antibody of those that were tested. However these patients had other autoimmune conditions including hematological manifestations, autoimmune enteropathy, and hypothyroidism. Identifying the underlying genetic etiology is clinically important for these patients as understanding the disease mechanism may allow the use of personalized therapy.
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