Portal de Periódicos da CAPES

COMMON VARIABLE IMMUNODEFICIENCY

2001; Elsevier BV; Volume: 21; Issue: 1 Linguagem: Inglês

10.1016/s0889-8561(05)70190-9

1557-8607

A. David B. Webster,

Chronic Lymphocytic Leukemia Research

There have been major advances in the understanding of the mechanisms of primary immunodeficiencies (PIDs) during the last decade as a result of the cloning of abnormal genes responsible for the majority of these disorders. These include rare single-gene disorders in which the mutated alleles were discovered by genetic linkage followed by mapping and sequencing of a locus or by testing for mutations in candidate genes that have homologues in rodents suggesting likely targets.53 Common variable immunodeficiency (CVID), the most prevalent of the PIDs, remains an enigma, and it will take years to develop a clear understanding of this disorder. One major problem when investigating cohorts of patients with CVID is knowing whether they have the same disease or different diseases with a similar clinical phenotype. It is likely that much of the literature on the mechanisms of CVID is tarnished by the inclusion of a few patients with late presentation of a single gene disorder characterized by hypoimmunoglobulinemia (e.g., X-linked agammaglobulinemia [XLA], X-linked hyper-IgM [X-HIM] syndrome). Nevertheless, a substantial proportion of patients diagnosed with CVID have a clinically definable, genetically based condition.