RESUMO
The genetic investigation of a family presenting with a dominant form of hyper IgM syndrome published in 1963 and 1975 revealed a R190X nonsense mutation in activation-induced cytidine deaminase. This report illustrates the progress made over 6 decades in the characterization of primary immunodeficiencies, from immunochemistry to whole-exome sequencing.
Assuntos
Citidina Desaminase/genética , Disgamaglobulinemia/genética , Previsões , Síndromes de Imunodeficiência/complicações , Mutação , Citidina Desaminase/metabolismo , Análise Mutacional de DNA , Disgamaglobulinemia/complicações , Disgamaglobulinemia/metabolismo , Feminino , Seguimentos , Humanos , Pessoa de Meia-IdadeRESUMO
Defects in regulation of the humoral immune system were examined in a family with selective IgA deficiency. Two patients (mother and son) were clinically well and had selective abnormalities of B lymphocytes that can differentiate into IgA plasma cells plus specific T cell suppression of IgA production. One patient (daughter) had several clinical problems and received nine monthly transfusions of normal plasma. Prior to therapy, this patient had abnormal immunoregulation of both B and T lymphocyte population that cooperated in the formation of all cases of immunoglobulin-producing cells. After treatment, her clinical problems were resolved and her cellular abnormalities appeared identical in those in her mother and brother.