Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a

Abbas Khalili; Alessandro Plebani; Massimiliano Vitali; Hassan Abolhassani; Vassilios Lougaris; Babak Mirminachi; Nima Rezaei; Asghar Aghamohammadi

doi:10.1007/s10875-014-9989-3

Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a

J Clin Immunol. 2014 Feb;34(2):138-41. doi: 10.1007/s10875-014-9989-3. Epub 2014 Feb 1.

Authors

Abbas Khalili¹, Alessandro Plebani, Massimiliano Vitali, Hassan Abolhassani, Vassilios Lougaris, Babak Mirminachi, Nima Rezaei, Asghar Aghamohammadi

Affiliation

¹ Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

PMID: 24481606
DOI: 10.1007/s10875-014-9989-3

Abstract

This study describes the fifth case worldwide of autosomal recessive agammaglobulinemia due to a novel non-sense mutation in CD79a gene with a severe unusual onset due to an invasive central nervous system infection.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Agammaglobulinemia / diagnosis
Agammaglobulinemia / genetics*
CD79 Antigens / genetics*
DNA Mutational Analysis
Female
Humans
Immunoglobulin Isotypes / blood
Infant
Male
Mutation*
Pedigree

Substances

CD79 Antigens
Immunoglobulin Isotypes

Supplementary concepts

Agammaglobulinemia, non-Bruton type