Ontology highlight
ABSTRACT:
SUBMITTER: Ferrari S
PROVIDER: S-EPMC2118692 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
The Journal of experimental medicine 20070820 9
Agammaglobulinemia is a rare primary immunodeficiency characterized by an early block of B cell development in the bone marrow, resulting in the absence of peripheral B cells and low/absent immunoglobulin serum levels. So far, mutations in Btk, mu heavy chain, surrogate light chain, Igalpha, and B cell linker have been found in 85-90% of patients with agammaglobulinemia. We report on the first patient with agammaglobulinemia caused by a homozygous nonsense mutation in Igbeta, which is a transmem ...[more]