Igβ deficiency in humans

Current Opinion in Allergy and Clinical Immunology

Volumn 8, Issue 6, 2008, Pages 515-519

  Lougaris, Vassilios ^a   Ferrari, Simona ^b   Plebani, Alessandro ^a  

^a UNIVERSITY OF BRESCIA   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Agammaglobulinemia; B cell development; Ig ; Pre B cell receptor

Indexed keywords

B LYMPHOCYTE RECEPTOR; BRUTON TYROSINE KINASE; CD19 ANTIBODY; CD79A ANTIGEN; CD79B ANTIGEN; DNA NUCLEOTIDYLEXOTRANSFERASE; HETERODIMER; IMMUNOGLOBULIN LIGHT CHAIN; IMMUNOGLOBULIN M; IMMUNOGLOBULIN MU CHAIN; PROTEIN KINASE LYN; RAG2 PROTEIN;

AGAMMAGLOBULINEMIA; AUTOSOMAL RECESSIVE DISORDER; B LYMPHOCYTE; BONE MARROW EXAMINATION; CELL MATURATION; ELECTROPHORESIS; GENE EXPRESSION; GENE MUTATION; GENETIC RECOMBINATION; HOMOZYGOSITY; HUMAN; IMMUNOGLOBULIN DEFICIENCY; MONONUCLEAR CELL; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVIEW; STEM CELL;

AGAMMAGLOBULINEMIA; ANIMALS; ANTIGENS, CD79; B-LYMPHOCYTE SUBSETS; B-LYMPHOCYTES; DNA MUTATIONAL ANALYSIS; GENE THERAPY; GENES, RECESSIVE; HUMANS; MICE; MICE, KNOCKOUT; MUTATION;

EID: 56749183340     PISSN: 15284050     EISSN: 14736322     Source Type: Journal    
DOI: 10.1097/ACI.0b013e328314b621     Document Type: Review

References (29)

1. Conley ME. Early defects in B cell development. Curr Opin Allergy Clin Immunol 2002; 2:517-522.
2. Conley ME, Parolini O, Rohrer J, Campana D. X-linked agammaglobulinemia: new approaches to old questions based on the identification of the defective gene. Immunol Rev 1994; 138:5-21.
3. Wang Y, Kanegane H, Sanal O, et al. Novel Igalpha (CD79a) gene mutation in a Turkish patient with B cell-deficient agammaglobulinemia. Am J Med Genet 2002; 108:333-336.
4. Minegishi Y, Coustan-Smith E, Wang YH, et al. Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 1998; 187:71-77.
5. Yel L, Minegishi Y, Coustan-Smith E, et al. Mutations in the mu heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335:1486-1493.
6. Minegishi Y, Rohrer J, Coustan-Smith E, et al. An essential role for BLNK in human B cell development. Science 1999; 286:1954-1957.
7. Ferrari S, Zuntini R, Lougaris V, et al. Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia. Genes Immun 2007; 8:325-333. This study describes molecular and genetic findings regarding mutations in pre-BCR components in a large cohort of patients with autosomal recessive agammaglobulinemia.
8. Cooper MD, Peterson RD, Good RA. Delineation of the thymic and bursal lymphoid systems in the chicken. Nature 1965; 205:143-146.
9. Osmond DG, Nossal GJ. Differentiation of lymphocytes in mouse bone marrow. II. Kinetics of maturation and renewal of antiglobulin-binding cells studied by double labeling. Cell Immunol 1974; 13:132-145.
10. Raff MC, Megson M, Owen JJ, Cooper MD. Early production of intracellular IgM by B-lymphocyte precursors in mouse. Nature 1976; 259:224-226.
11. Burrows P, LeJeune M, Kearney JF. Evidence that murine pre-B cells synthesise mu heavy chains but no light chains. Nature 1979; 280:838-840.
12. Sakaguchi N, Melchers F. Lambda 5, a new light-chain-related locus selectively expressed in pre-B lymphocytes. Nature 1986; 324:579-582.
13. Kudo A, Melchers F. A second gene, VpreB in the lambda 5 locus of the mouse, which appears to be selectively expressed in pre-B lymphocytes. EMBO J 1987; 6:2267-2272.
14. Lassoued K, Illges H, Benlagha K, Cooper MD. Fate of surrogate light chains in B lineage cells. J Exp Med 1996; 183:421-429.
15. Hendershot LM, Kearney JF. A role for human heavy chain binding protein in the developmental regulation of immunoglobin transport. Mol Immunol 1988; 25:585-595.
16. Coffman RL, Weissman IL. Immunoglobulin gene rearrangement during pre-B cell differentiation. J Mol Cell Immunol 1983; 1:31-41.
17. Ehlich A, Schaal S, Gu H, et al. Immunoglobulin heavy and light chain genes rearrange independently at early stages of B cell development. Cell 1993; 72:695-704.
18. Engel H, Rolink A, Weiss S. B cells are programmed to activate kappa and lambda for rearrangement at consecutive developmental stages. Eur J Immunol 1999; 29:2167-2176.
19. Hombach J, Tsubata T, Leclercq L, et al. Molecular components of the B-cell antigen receptor complex of the IgM class. Nature 1990; 343:760-762.
20. Wood WJ Jr, Thompson AA, Korenberg J, et al. Isolation and chromosomal mapping of the human immunoglobulin-associated B29 gene (IGB). Genomics 1993; 16:187-192.
21. Hashimoto S, Gregersen PK, Chiorazzi N. The human Ig-beta cDNA sequence, a homologue of murine B29, is identical in B cell and plasma cell lines producing all the human Ig isotypes. J Immun 1993; 150:491-498.
22. Gong S, Nussenzweig MC. Regulation of an early developmental checkpoint in the B cell pathway by Ig beta. Science 1996; 272:411-414.
23. Nagata K, Nakamura T, Kitamura F, et al. The Ig alpha/Igbeta heterodimer on mu-negative proB cells is competent for transducing signals to induce early B cell differentiation. Immunity 1997; 7:559-570.
24. Kouro T, Nagata K, Takaki S, et al. Bruton's tyrosine kinase is required for signaling the CD79b-mediated pro-B to pre-B cell transition. Int Immunol 2001; 13:485-493.
25. Benlagha K, Guglielmi P, Cooper MD, Lassoued K. Modifications of Igalpha and Igbeta expression as a function of B lineage differentiation. J Biol Chem 1999; 274:19389-19396.
26. Meffre E, Nussenzweig MC. Deletion of immunoglobulin beta in developing B cells leads to cell death. Proc Natl Acad Sci U S A 2002; 99:11334-11339.
27. Ferrari S, Lougaris V, Caraffi S, et al. Mutations of the Igbeta gene cause agammaglobulinemia in man. J Exp Med 2007; 204:2047-2051. This study describes one of the first patients affected with agammaglobulinemia as a result of Igβ deficiency.
28. Conley ME, Farmer DM, Dobbs AK, et al. A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease. Clin Exp Immunol 2008; 152:39-44. This study describes one of the first patients affected with agammaglobulinemia because of a mutation in the Igβ gene.
29. Minegishi Y, Coustan-Smith E, Rapalus L, et al. Mutations in Igα (CD79a) result in a complete block in B-cell development. J Clin Invest 1999; 104:1115-1121.