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.