Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM

Journal of Clinical Pathology - Molecular Pathology

Volumn 56, Issue 5, 2003, Pages 256-262

  Gilmour, K C ^a   Walshe, D ^a   Heath, S ^a   Monaghan, G ^a   Loughlin, S ^a   Lester, T ^a   Norbury, G ^a   Cale, C M ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 LIGAND; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

ARTICLE; BIOASSAY; BLOOD ANALYSIS; CONTROLLED STUDY; FLOW CYTOMETRY; GENETIC ANALYSIS; HUMAN; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; AGING; CD40 LIGAND; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; IMMUNOGLOBULINS; INFANT; MIDDLE AGED; PATIENT SELECTION;

EID: 0141987943     PISSN: 13668714     EISSN: None     Source Type: Journal    
DOI: 10.1136/mp.56.5.256     Document Type: Article

References (24)

1. Notarangelo LD, Hayward AR. X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol 2000;120:399-405.
2. Graf D, Korthauer U, Mages HW, et al. Cloning of TRAP, a ligand for CD40 on human T cells. Eur J Immunol 1992;22:3191-4.
3. Hollenbaugh D, Grossmaire LS, Kulles CD, et al. The human T cell antigen gp39, a member of the TNF gene family, is a ligand for the CD40 receptor: expression of a soluble form of gp39 with B cell co-stimulatory activity. EMBO J 1992;11:4313-21.
4. van Kooten C, Banchereau J. Functions of CD40 on B cells, dendritic cells and other cells. Curr Opin Immunol 1997;9:330-7.
5. Durie FH, Fay TM, Mastris SR, et al. The role of CD40 in the regulation of humoral and cell-mediated immunity. Immunol Today 1994;15:406-11.
6. Callard RE, Smith SH, Herbert, et al. CD40 ligand (CD40L) expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM (HIM). J Immunol 1994;22:3295-306.
7. Seyama K, Nonoyama S, Gangsaas I, et al. Mutations in CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood 1998;92:2421-34.
8. Rosen FS, Eibl M, Roifman C, et al. Primary immunodeficiency diseases, report of an IUIS scientific committee. Clin Exp Immunol 1999;118(suppl 1):1-28.
9. European Society for Immunodeficiency. Diagnostic criteria for primary immunodeficiency. www.esid/13xhim.html.
10. Su L, Garber EA, Hsu YM. CD154 variant lacking tumor necrosis factor homologous domain inhibits cell surface expression of wild-type protein. J Biol Chem 2001;276:1673-6.
11. de Vries E, Noordzij J, Davies EG, et al. The 782C_T (T254M) mutation: lack of a tight phenotype-genotype relationship. Blood 1999;94:1488-9.
12. Levy J, Espanol-Boren T, Thomas C, et al. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997;131:47-54.
13. Original CD40L base (now closed to submission): www.expasy.ch/cd40lbase.
14. CD40L base: http://www.uta.fi/imt.bioinfo/CD40Lbase.
15. Kroczek RA, Graf D, Brungnoni D, et al. Defective expression of CD40 ligand on T cells causes X-linked immunodeficiency with hyper-IgM (HIGM1). Immunol Rev 1994;183:39-59.
16. Katz F, Hinshelwood S, Rutland P, et al. Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinaemia with hyper IgM syndrome. Hum Mutat 1996;8:223-8.
17. Antonarakis SE, and the Nomenclature Working Group. Recommendations for a nomenclature system for human gene mutations. Hum Mutat 1998;11:1-3.
18. Gilmour KC, Cranston T, Loughlin S, et al. Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency. Br J Haematol 2001;112:671-6.
19. Lin Q, Rohrer J, Cutler Allen R, et al. A single stranded conformation polymorphism study of CD40 ligand: efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest 1996;97:196-201.
20. Notarangelo LD, Peitsch MC. CD40Lbase: a database of CD40L gene mutations causing X-linked Hyper-IgM syndrome. Immunol Today 1996;17:511-16.
21. Nonoyama S, Penix LA, Edwards CP, et al. Diminished expression of CD40 ligand by activated neonatal cells. J Clin Invest 1995;95:66-75.
22. Genevier HC, Hinshelwood S, Gaspar HB, et al. Expression of Bruton's tyrosine kinase within the B cell lineage. Eur J Immunol 1994;24:3100-5.
23. Qasim W, Gilmour KC, Heath S, et al. Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Br J Haematol 2001;112:861-5.
24. Gilmour KC, Cranston T, Jones A, et al. Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression. Eur J Immunol 2000;30:1691-7.