Molecular defects in T- and B-cell primary immunodeficiency diseases.
More than 120 inherited primary immunodeficiency diseases have been discovered in the past five decades, and the precise genetic defect in many of these diseases has now been identified. Increasing understanding of these molecular defects has considerably influenced both basic and translational research, and this has extended to many branches of medicine. Recent advances in both diagnosis and therapeutic modalities have allowed these defects to be identified earlier and to be more precisely defined, and they have also resulted in more promising long-term outcomes. The prospect of gene therapy continues to be included in the armamentarium of treatment considerations, because these conditions could be among the first to benefit from gene-therapy trials in humans.
Cunningham-Rundles
Charlotte
C
Division of Clinical Immunology, Mount Sinai School of Medicine, 1425 Madison Avenue, Box 1089, New York, New York 10029, USA. charlotte.cunningham-rundles@mssm.edu
Ponda
Prashant P
PP
D001402:B-Lymphocytes / Q000276:immunology*; D016026:Bone Marrow Transplantation; D005260:Female; D015316:Genetic Therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology* / Q000628:therapy; D008297:Male; D016511:Severe Combined Immunodeficiency; D033581:Stem Cell Transplantation; D013601:T-Lymphocytes / Q000276:immunology*