Common variable immunodeficiency (hypogammaglobulinemia) with an autosomal recessive pattern of inheritance.

A 5 year-old boy presented with recurrent arthritis associated with fever first at 2 years and later at 3 and 5 years of age. He had an affected (hypogammaglobulinemic) elder sister with severe recurrent infections. His younger male sibling is normal. The parents are consanguineous but unaffected. His immunologic parameters indicated panhypogammaglobulinemia, normal absolute Iymphocyte counts but low B cell counts and hyporesponsive proliferation to mitogen (PHA). He had an inverse T helper T suppressor ratio with increased T suppressor/cytotoxic phenotype. Complement studies and nitroblue tetralozium reduction test were normal. The clinical features, immunological parameters and pedigree pattern suggest a diagnosis of familial variable immunodeficiency with autosomal recessive pattern of inheritance.