Cutting edge: a hypomorphic mutation in Igbeta (CD79b) in a patient with immunodeficiency and a leaky defect in B cell development

Ornella Parolini, A. Kerry Dobbs, Tianyu Yang, Dana Farmer, Leo Kager, Mary Ellen Conley

Risultato della ricerca: Contributo in rivistaArticolo in rivista

53 Citazioni (Scopus)

Abstract

Although null mutations in Igalpha have been identified in patients with defects in B cell development, no mutations in Igbeta have been reported. We recently identified a patient with a homozygous amino acid substitution in Igbeta, a glycine to serine at codon 137, adjacent to the cysteine required for the disulfide bond between Igalpha and Igbeta. This patient has a small percentage of surface IgM(dim) B cells in the peripheral circulation (0.08% compared with 5-20% in healthy controls). Using expression vectors in 293T cells or Jurkat T cells, we show that the mutant Igbeta can form disulfide-linked complexes and bring the mu H chain to the cell surface as part of the BCR but is inefficient at both tasks. The results show that minor changes in the ability of the Igalpha/Igbeta complex to bring the BCR to the cell surface have profound effects on B cell development.
Lingua originaleEnglish
pagine (da-a)2055-2059
Numero di pagine5
RivistaJOURNAL OF IMMUNOLOGY
Volume179
DOI
Stato di pubblicazionePubblicato - 2007

Keywords

  • Amino Acid Substitution
  • Antigens, CD79
  • B-Lymphocytes
  • Cell Differentiation
  • Child, Preschool
  • Common Variable Immunodeficiency
  • Disulfides
  • Gene Expression
  • Genetic Diseases, Inborn
  • Homozygote
  • Humans
  • Immunoglobulin M
  • Immunoglobulin mu-Chains
  • Immunoglobulins
  • Jurkat Cells
  • Mutation, Missense

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