A rare case of variable immune deficiency with type II dysgammaglobulinaemia, light chain defect, gut associated IgA deficiency and progressive neutropenia.
This report describes in detail an unusual variant of a common variable immunodeficiency disease in a seven-year-old boy. The unique features were progressive neutropenia due to defective myelopoiesis, serum IgG and IgA deficiencies, defective immunoglobulin light-chain synthesis, absence of secretory IgA and IgM gammopathy. He had been born healthy, but following a thermal injury at the age of 1 1/2 years, he suffered recurrent attacks of sinopulmonary and urinary tract infections, enteritis due to enteropathogenic E. coli, Giardia lamblia and E. histolytica, developed pulmonary tuberculosis and died of deep mycotic infection of the oral cavity and obstruction of the bronchial tree. The cause of the defective myelopoiesis could not be determined, but it might have been due to prolonged sulphomamide therapy administered for controlling his persistent urinary tract infection due to paraphymosis.
D000380:Agranulocytosis / Q000276:immunology*; D002648:Child; D004064:Digestive System / Q000276:immunology; D004406:Dysgammaglobulinemia / Q000276:immunology*; D006801:Humans; D006942:Hypergammaglobulinemia / Q000276:immunology; D017098:IgA Deficiency; D017099:IgG Deficiency; D007147:Immunoglobulin Light Chains; D007075:Immunoglobulin M; D007153:Immunologic Deficiency Syndromes / Q000276:immunology*; D008297:Male; D009503:Neutropenia / Q000276:immunology*
D007147:Immunoglobulin Light Chains; D007075:Immunoglobulin M