Ig beta deficiency in humans.
OBJECTIVE
To describe novel immunological and molecular findings regarding early B cell development arrest resulting in autosomal recessive agammaglobulinemia.


RESULTS
Recently two different groups identified mutations in Ig beta, a component of the pre-B cell receptor, responsible for agammaglobulinemia in humans. These are the first two patients ever described with mutations in Ig beta.


CONCLUSIONS
These novel findings broaden the spectrum of genetic defects underlying this rare condition. This novel cause of agammaglobulinemia not only sheds light into early B cell development in humans but also sets the basis for potential alternative therapeutic approaches such as gene therapy.
Lougaris
Vassilios
V
Department of Pediatrics and Molecular Medicine Laboratory A. Nocivelli, University of Brescia, Brescia, Italy.
Ferrari
Simona
S
Plebani
Alessandro
A
D000361:Agammaglobulinemia / Q000235:genetics* / Q000473:pathology* / Q000628:therapy; D000818:Animals; D016175:B-Lymphocyte Subsets / Q000378:metabolism* / Q000473:pathology; D001402:B-Lymphocytes / Q000378:metabolism* / Q000473:pathology; D051925:CD79 Antigens / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D004252:DNA Mutational Analysis; D005808:Genes, Recessive / Q000276:immunology; D015316:Genetic Therapy / Q000639:trends; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation
D051925:CD79 Antigens