Diagnóstico molecular de inmunodeficiencias primarias

Allergologia et Immunopathologia

Volumn 29, Issue 3, 2001, Pages 107-113

  Rodríguez, M C García ^a   Granados, E López ^a   Martínez, R Cambronero ^b   Cerdán, A Ferreira ^a   Casariego, G Fontán ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

Bruton's tyrosin kinase; CD40 ligand; Hyper IgM syndrome; Inmunodeficiency; X liked agammaglobulinemia

Indexed keywords

AGAMMAGLOBULINAEMIA TYROSINE KINASE; CD40 LIGAND; IMMUNOGLOBULIN M; PROTEIN TYROSINE KINASE;

ADULT; AGAMMAGLOBULINEMIA; BIOSYNTHESIS; BLOOD; DNA SEQUENCE; DOMINANT GENE; ENZYMOLOGY; EXON; FACTUAL DATABASE; FEMALE; FETUS DISEASE; GENETICS; HETEROZYGOTE DETECTION; HUMAN; HYPERGAMMAGLOBULINEMIA; IMMUNE DEFICIENCY; INFANT; INTERNET; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRENATAL DEVELOPMENT; PRENATAL DIAGNOSIS; RECESSIVE GENE; REVIEW; RNA PROCESSING; SINGLE STRAND CONFORMATION POLYMORPHISM; X CHROMOSOME;

ADULT; AGAMMAGLOBULINEMIA; CD40 LIGAND; DATABASES, FACTUAL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FETAL DISEASES; GENES, DOMINANT; GENES, RECESSIVE; HETEROZYGOTE DETECTION; HUMANS; HYPERGAMMAGLOBULINEMIA; IMMUNOGLOBULIN M; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; INFANT, NEWBORN; INTERNET; MALE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PRENATAL DIAGNOSIS; PROTEIN-TYROSINE KINASES; RNA PROCESSING, POST-TRANSCRIPTIONAL; SEQUENCE ANALYSIS, DNA; X CHROMOSOME;

EID: 85018814622     PISSN: 03010546     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-0546(01)79028-3     Document Type: Article

References (28)

1. Primary immunodeficiency diseases. Report of an IUIS Scientific Group. Clin Exp Immunol 1999;118 (suppl 1): 1-28.
2. Kwan SP, Kunkel L, Bruns G, Wedgwood RJ, Latt S, Rosen FS. Mapping of the X-linked agammaglobulinaemia locus by use of restriction fragment-length polymorphism. J Clin Invest 1986; 77: 649-52.
3. Vetrie D, Vorechovsky I, Sideras P et al. The gene irvolved in X-linked agammaglobulinaemia is a member of the Src family of protein-tyrosine kinases. Nature 1993; 361: 226-33.
4. Tsukada S, Saffran DC, Rawling DJ et al. Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinaemia. Cell 1993; 72: 279-90.
5. Vorechosky I, Luo L, de Saint Basile, Hammarström L, Webster ADB, Smith CIE. Improved oligonucleotide primer set for molecular diagnosis of X-linked agammaglobulinaemia: predominance of amino acid substitutions in the catalytic domain of Bruton's tyrosine kinase. Hum Mol Genet 1995; 4: 2403-5.
6. Vorechosky I, Luo L, Hertz JM et al. Mutations patterns in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinaemia. Hum Mutat 1997; 9: 418-25.
7. Roher J, Minegishi Y, Richter D, Eguiguren J, Conley ME. Unusual mutations in Btk: an insertion, duplication, an inversion and four large deletions. Clinical Immunol 1999; 90: 28-37.
8. Yel L, Minegishi Y, Coustan-Smith E et al. Mutations in the μ heavy chain gene in patients with agammaglobulinemia. N Engl J Med 1996; 335: 1486-93.
9. Minegishi Y, Coustan-Smith E, Wang YH Cooper MD, Campana D, Conley ME. Mutations in the human γ 5/14.1 gene result in B cell deficiency and agammaglobulinemia. J Exp Med 1998; 187: 71-7.
10. Kanegane H, Tusukada S, Iwata T et al. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinemia males registered as common variable immunodeficiency (CVID) in Japanese Immunodeficiency Registry. Clin Exp Immunol 2000; 120: 512-7.
11. Vihinen M, Kwan SP, Lester T et al. Mutations of the human Btk gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia. Hum Mutat 1999; 13: 280-5.
12. Tao L, Boyd M, Gonye G, Malone B, Schwaber J. BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations. Hum Mutat 2000; 377: 1-7.
13. Gaspar Hb, Bradley LAD, Katz F et al. Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinemia gene, including identification of an insertional hotspot. Hum Mol Genet 1995; 4: 755-7.
14. Hashimoto S, Tsukada S, Matsushita M et al. Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan. Blood 1996; 88: 561-73.
15. Orlandi P, Ritis K, Moschese V et al. Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia patients. Hum Mut 1999. Mut in Brief #285.
16. Futatani T, Miyawaki T, Tsukada S et al. Deficient expression of Bruton's tyrosine kinase in monocytes from X-linked agammaglobulinemia as evaluated by flow cytometric analysis and its clinical application to carrier detection. Blood 1998; 91: 595-602.
17. De Weers M, Dingjan GM, Brouns GS et al. Expression of Bruton's tyrosine kinase in B lymphoblastoid cell lines from X-linked agammaglobulinaemia patients. Clin Exp Immunol 1997; 107: 235-40.
18. Gaspar HB, Lester T, Levinsky RJ, Kinnon C. Bruton's tyrosine kinase expression and activiy in X-linked agammaglobulinemia: the use of protein analysis as a diagnostic indicator of XLA. Clin Exp Immunol 1998; 111: 334-8.
19. Moschese V, Orlandi R Plebani A et al. X-chromosoma inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Mol Med 2000; 6: 104-13.
20. Seyama K, Kobayashi R, Hasle H et al. Parvovirus B19 induced anemia as the presenting manifestation of X-linked Hyper IgM syndrome. J Infect Dis 1998; 178: 318-24.
21. Agematsu K, Nagumo H, Shinozaki K et al. Absence of IgD-CD27 + memory B cell population in X-linked Hyper IgM syndrome. J Clin Invest 1998; 102: 853-60.
22. Di Santo JP, Bonnefoy JY, Gauchat JF, Fischer A, de saint Basile G. CD40 ligand mutations in X linked immunodeficiency with hyper IgM. Nature 1993; 361: 541-3.
23. Aruffo A, Farrington M, Hollenbaugh D, et al. The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. Cell 1993; 72: 291-300.
24. Callard RE, Smith SH. Herbert J et al. CD40 ligand expression and B cell function in agammaglobulinemia with normal or elevated levels of IgM. J Immunol 1994; 153: 3295-306.
25. Seyama K, Nonoyama S, Gangsaas I et al. Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked Hyper IgM syndrome. Blood 1998; 92: 2421-34.
26. Farrington M, Grosmaire LS, Nonoyama et al. CD40 ligand expression is defective in a subset of patients with common variable immunodeficiency. Proc Natl Acad Sci. USA 1994; 91: 1099-103.
27. Conley ME, Larche M, Bonagura VR et al. Hyper IgM syndrome associated with defective CD40 mediated B cell activation. J Clin Invest 1994; 94: 1404-9.
28. Revy P, Muto T, Levy Y et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper IgM syndrome (HIGM2). Cell 2000; 102: 565-75.