Autosomal recessive agammaglobulinemia: a novel non-sense mutation in CD79a.
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.
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Abbas
A
Khalili
Alessandro
A
Plebani
Massimiliano
M
Vitali
Hassan
H
Abolhassani
Vassilios
V
Lougaris
Babak
B
Mirminachi
Nima
N
Rezaei
Asghar
A
Aghamohammadi
D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D051925:CD79 Antigens / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007132:Immunoglobulin Isotypes / Q000097:blood; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree
D051925:CD79 Antigens; D007132:Immunoglobulin Isotypes