Primary immunodeficiency with early encephalopathy in two siblings. An anatomo-clinical study.
The authors describe two siblings affected by an immunodeficiency state characterized by low IgA and IgM levels in serum, and an early encephalopathy with infantile spasms and hypsarrhythmia. The nosography of this unusual association and the relationship to ataxia telangiectasia and allied disorders are briefly discussed.
D001344:Autopsy; D001402:B-Lymphocytes / Q000276:immunology; D002531:Cerebellum / Q000473:pathology; D002540:Cerebral Cortex / Q000473:pathology; D002675:Child, Preschool; D004406:Dysgammaglobulinemia / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D005260:Female; D006801:Humans; D007070:Immunoglobulin A; D007075:Immunoglobulin M; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D013036:Spasms, Infantile / Q000150:complications / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D013601:T-Lymphocytes / Q000276:immunology
D007070:Immunoglobulin A; D007075:Immunoglobulin M