X-linked Hyper IgM (HIGM1) in an African kindred: The first report from South Africa

BMC Pediatrics

Volumn 3, Issue , 2003, Pages

  Pienaar, Sandra ^a   Eley, Brian S ^a   Hughes, Jane ^a   Henderson, Howard E ^a  

^a UNIVERSITY OF CAPE TOWN   (South Africa)

Author keywords

[No Author keywords available]

Indexed keywords

CD40 LIGAND; COMPLEMENTARY DNA; GENOMIC DNA; HYPERIMMUNE GLOBULIN; IMMUNOGLOBULIN M; RESTRICTION ENDONUCLEASE;

ANTIGEN EXPRESSION; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC TEST; DISEASE CARRIER; DNA DETERMINATION; DNA FLANKING REGION; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPOGAMMAGLOBULINEMIA; INTRON; MALE; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SOUTH AFRICA; T LYMPHOCYTE ACTIVATION; X CHROMOSOME LINKED DISORDER;

CD40 LIGAND; CHILD; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; MALE; MUTATION; PEDIGREE; SOUTH AFRICA;

EID: 2642530394     PISSN: 14712431     EISSN: None     Source Type: Journal    
DOI: 10.1186/1471-2431-3-12     Document Type: Article

References (23)

1. Isreal-Asselain R, Burtin P, Chebat J: Un trouble biologique nouveau: L'agammaglobulinemie avec beta2-microglobulinemia (un cas). Bull Soc Med Hosp Paris 1960, 76:519-523.
2. Padayachee M, Feighery C, Finn A, McKeown C, Levinsky RJ, Kinnon C, Malcolm S: Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics 1992, 14(2):551-3.
3. Allen RC, Armitage RJ, Conley ME, Rosenblatt H, Jenkins NA, Copeland NG, Bedell MA, Edelhoff S, Disteche CM, Simoneaux DK, Fanslow WC, Belmont J, Spriggs MK: CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. Science 1993, 259:990-3.
4. Aruffo A, Farrington M, Hollenbaugh D, Li X, Milatovich A, Nonoyama S, Bajorath J, Grosmaire LS, Stenkamp R, Neubauer M: The CD40 ligand gp39 is defective in activated T cells from patients with X-linked hyper IgM syndrome. Cell 1993, 72:291.
5. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A: Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of hyper-IgM syndrome (HIGM2). Cell 2000, 102:565-575.
6. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A: Mutations in CD40 gene causes an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci USA 2001, 98:12614-12619.
7. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrabamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD: Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997, 131((1 pt 1)):47-54.
8. Notarangelo LD, Hayward AR: X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol 2000, 120:399-405.
9. Khawaja K, Gennery AR, Flood TJ, Abinun M, Cant AJ: Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch Dis Child 2001, 84:508-511.
10. Hadžic N, Pagliuca A, Rela M, Portmann B, Jones A, Veys P, Heaton ND, Mufti GJ, Mieli-Vergani G: Correction of the hyper-IgM syndrome after liver and bone marrow transplantation. N Engl J Med 2000, 321:320-324.
11. Hollenbaugh D, Wu LH, Ochs HD, Nonoyama S, Grosmaire LS, Ledbetter JA, Noelle RJ, Hill H, Aruffo A: The random inactivation of the X chromosome carrying the defective gene responsible for X-Linked Hyper IgM Syndrome (XHIM) in female carriers. J Clin Invest 1994, 94:616-622.
12. Clark LB, Foy TM, Noelle RJ: CD40 and its ligand. Adv Immunol 1996, 63:43-78.
13. Durie FH, Foy TM, Masters SR, Laman JD, Noelle RJ: The role of CD40 in the regulation of humoral and cell-mediated immunity. Immunol Today 1994, 15:406-411.
14. Conley ME, Larché M, Bonagura VR, Lawton AR 3rd, Buckley RH, Fu SM, Coustan-Smith E, Herrod HG, Campana D: Hyper IgM syndrome associated with defective CD40-mediated B cell activation. J Clin Invest 1994, 94:1404-1409.
15. The European CD40L defect database [http://www.uta.fi/imt/bioinfo/CD40Lbase/]
16. Notarangelo LD, Peitsch MC: CD40Lbase: A database of CD40 L gene mutations causing X-linked hyper-IgM syndrome. Immunol Today 1996, 17:511-516.
17. O'Gorman MRG, Zaas D, Paniagua M, Corrochano V, Scholl PR, Pachman LM: Development of a rapid whole blood flow cytometry procedure for the diagnosis of X-linked hyper-IgM syndrome patients and carriers. Clin Immunol Immunopathol 1997, 85:172-181.
18. Eley B, Beatty D: Primary immunodeficiency diseases in Cape Town. Allergy & Clinical Immunology International 2000, 12:267-270.
19. Arkwright PD, Abinun M, Cant AJ: Autoimmunity in human primary immunodeficiency diseases. Blood 2002, 99:2694-2702.
20. Antione C, Muller S, Cant A, Cavazzana-Calvo M, Veys P, Vossen J, Fasth A, Heilmann C, Wulffraat N, Seger R, Blanche S, Friedrich W, Abinun M, Davies G, Bredius R, Schulz A, Landais P, Fischer A, European Group for Blood and Marrow Transplantation; European Society for Immunodeficiency: Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies report of the European experience 1968 - 99. Lancet 2003, 361:553-560.
21. Buhler M, Wilkinson MF, Muhlemann O: Intranuclear degradation of nonsense codon-containing mRNA. EMBO Rep 2002, 3:646-51.
22. Rudiger NS, Gregersen N, Kielland-Brandt MC: One short well conserved region of Alu-sequences is involved in human gene rearrangements and has homology with prokaryotic chi. Nucleic Acids Res 1995, 23:256-60.
23. Canning S, Dryja TP: Short direct repeats at the breakpoints of deletions of the retinoblastoma gene. Proc Natl Acad Sci USA 1989, 86:5044-48.