Agammaglobulinemia caused by defects other than BTK

作者:Grunebaum E*
来源:Immunology and Allergy Clinics of North America, 2001, 21(1): 45-+.
DOI:10.1016/S0889-8561(05)70192-2

摘要

In recent years, patients with an immunodeficiency comprised of agammaglobulinemia and reduced circulating B-cell numbers were identified in which the pattern of inheritance, a lack of BTK abnormality or a female sex, indicated that mutations in genes other than BTK may result in a similar phenotype. Better understanding of B-cell development and function has allowed delineation of some of these mutations, including the mu heavy chain, Ig alpha and surrogate chains, and BLNK adaptor protein. Further research in humans, and knowledge gained from animal models, will help define additional causes of agammaglobulinemia.

  • 出版日期2001-2