Single Mutation Different Clinical Findings: IGLL1 Defect

Agammaglobulinemia is a rare inherited immunodeficiency disorder characterized by low or absent B cells with absent immunoglobulins. While X-linked agammaglobulinemia (XLA) is the most common type other genetic forms of agammaglobulinemia have been identified. During early childhood, passively transferred maternal Immunoglobulin G protects against various infections. The depletion of these antibodies begins between 6 and 12 months of age, resulting in recurrent sinusitis, bronchitis, and pneumonia in children with X-linked agammaglobulinemia. However, less common autosomal recessive forms of agammaglobulinemia present with more severe clinical features, leading to earlier diagnosis. Herein we present the case of a two-month-old male with IGLL1 gene defect and different clinical findings of family members with the same mutation.