Familial combined cellular and humoral immune defect with multisystem granulomata.
A brother and sister presented with recurrent respiratory infections. Investigations showed combined cellular and humoral immune defects and non-caseating granulomata in lungs, liver, lymph nodes, and skin. Despite antimycobacterial chemotherapy and corticosteroids in the brother and the additional treatment of human immunoglobulin injections in the sister both patients deteriorated with pulmonary and hepatic involvement.
D000293:Adolescent; D000328:Adult; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D006099:Granuloma / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006968:Hypersensitivity, Delayed; D008107:Liver Diseases / Q000235:genetics; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics; D008297:Male; D012141:Respiratory Tract Infections / Q000209:etiology; D012507:Sarcoidosis / Q000175:diagnosis