X-linked thrombocytopenia in a female with a complex familial pattern of X-chromosome inactivation

Blood Cells, Molecules, and Diseases

Volumn 51, Issue 2, 2013, Pages 125-129

  Daza Cajigal, V ^a   Martinez Pomar N ^a   Garcia Alonso, A ^b   Heine Suner D ^a   Torres, S ^c   Vega, A K ^c   Molina, I J ^c   Matamoros, N ^a  

^a HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^b HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^c UNIVERSITY OF GRANADA   (Spain)

Author keywords

Primary immunodeficiency; WAS gene; Wiskott Aldrich syndrome; X chromosome inactivation; X linked thrombocytopenia

Indexed keywords

WISKOTT ALDRICH SYNDROME PROTEIN;

ALLELE; ARTICLE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; HUMAN CELL; MICROVILLUS; PETECHIA; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; T LYMPHOCYTE; THROMBOCYTE COUNT; THROMBOCYTOPENIA; WAS GENE; X CHROMOSOME; X CHROMOSOME INACTIVATION; X LINKED THROMBOCYTOPENIA;

ALLELES; CHILD, PRESCHOOL; FEMALE; GENE EXPRESSION; GENETIC DISEASES, X-LINKED; HAPLOTYPES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; T-LYMPHOCYTES; THROMBOCYTOPENIA; WISKOTT-ALDRICH SYNDROME PROTEIN; X CHROMOSOME INACTIVATION;

EID: 84878389913     PISSN: 10799796     EISSN: 10960961     Source Type: Journal    
DOI: 10.1016/j.bcmd.2013.04.004     Document Type: Article

References (36)

1. Aldrich A., Steinberg A., Campbell D. Pedigree demonstrating a sex-linked condition characterized by draining ears, eczematoid dermatitis and bloody diarrhoea. Pediatrics 1954, 133-138.
2. Cooper M.D., Chae H.P., Lowman J.T., Krivit W., Good R.A. Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity. Am. J. Med. 1968, 44:499-513.
3. Ochs H.D., Slichter S.J., Harker L.A., Von Behrens W.E., Clark R.A., Wedgwood R.J. The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood 1980, 55:243-252.
4. Derry J.M., Ochs H.D., Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 78:635-644.
5. Badour K., Zhang J., Siminovitch K.A. The Wiskott-Aldrich syndrome protein: forging the link between actin and cell activation. Immunol. Rev. 2003, 192:98-112.
6. Burns S., Cory G.O., Vainchenker W., Thrasher A.J. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood 2004, 104:3454-3462.
7. Molina I.J., Sancho J., Terhorst C., Rosen F.S., Remold-O'Donnell E. T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J. Immunol. 1993, 151:4383-4390.
8. Gallego M.D., Santamaría M., Peña J., Molina I.J. Defective actin reorganization and polymerization of Wiskott-Aldrich T-cells in response to CD3-mediated stimulation. Blood 1997, 90:3089-3097.
9. Dupre L., Aiuti A., Trifari S., et al. Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity 2002, 17:157-166.
10. Maillard M.H., Cotta-de-Almeida V., Takeshima F., et al. The Wiskott-Aldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells. J. Exp. Med. 2007, 204:381-391.
11. Humblet-Baron S., Sather B., Anover S., et al. Wiskott-Aldrich syndrome protein is required for regulatory T cell homeostasis. J. Clin. Invest. 2007, 117:407-418.
12. Notarangelo L.D., Miao C.H., Ochs H.D. Wiskott-Aldrich syndrome. Curr. Opin. Hematol. 2008, 15:30-36.
13. Andreu N., Matamoros N., Escudero A., Fillat C. Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia. Int. J. Mol. Med. 2007, 19:777-782.
14. Villa A., Notarangelo L.D., Macchi P., et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat. Genet. 1995, 9:414-417.
15. Thompson L.J., Lalloz M.R., Layton D.M. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Blood Cells Mol. Dis. 1999, 25:218-226.
16. Devriendt K., Kim A.S., Mathijs G., et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat. Genet. 2001, 27:313-317.
17. Ancliff P.J., Blundell M.P., Cory G.O., et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006, 108:2182-2189.
18. Proust A., Guillet B., Picard C., et al. Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR. Blood Cells Mol. Dis. 2007, 39:102-106.
19. Lutskiy M.I., Rosen F.S., Remold-O'Donnell E. Genotype-proteotype linkage in the Wiskott-Aldrich syndrome. J. Immunol. 2005, 175:1329-1336.
20. Albert M.H., Bittner T.C., Nonoyama S., et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010, 115:3231-3238.
21. Puck J.M., Willard H.F. X inactivation in females with X-linked disease. N. Engl. J. Med. 1998, 338:325-328.
22. Brown C.J., Robinson W.P. The causes and consequences of random and non-random X chromosome inactivation in humans. Clin. Genet. 2000, 58:353-363.
23. Lyon M.F. X-chromosome inactivation and human genetic disease. Acta Paediatr. Suppl. 2002, 91:107-112.
24. Migeon B.R. The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases. JAMA 2006, 295:1428-1433.
25. Belmont J.W. Genetic control of X inactivation and processes leading to X-inactivation skewing. Am. J. Hum. Genet. 1996, 58:1101-1108.
26. Toscano M.G., Frecha C., Benabdellah K., et al. Hematopoietic-specific lentiviral vectors circumvent cellular toxicity due to ectopic expression of Wiskott-Aldrich syndrome protein. Hum. Gene Ther. 2008, 19:179-197.
27. Molina I.J., Kenney D.M., Rosen F.S., Remold-O'Donnell E. T cell lines characterize events in the pathogenesis of the Wiskott-Aldrich syndrome. J. Exp. Med. 1992, 176:867-874.
28. Plenge R.M., Hendrich B.D., Schwartz C., et al. A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation. Nat. Genet. 1997, 17:353-356.
29. Martinez-Pomar N., Munoz-Saa I., Heine-Suner D., Martin A., Smahi A., Matamoros N. A new mutation in exon 7 of NEMO gene: late skewed X-chromosome inactivation in an incontinentia pigmenti female patient with immunodeficiency. Hum. Genet. 2005, 118:458-465.
30. Andreu N., Pujol-Moix N., Martinez-Lostao L., et al. Wiskott-Aldrich syndrome in a female with skewed X-chromosome inactivation. Blood Cells Mol. Dis. 2003, 31:332-337.
31. Lutskiy M.I., Sasahara Y., Kenney D.M., Rosen F.S., Remold-O'Donnell E. Wiskott-Aldrich syndrome in a female. Blood 2002, 100:2763-2768.
32. Inoue H., Kurosawa H., Nonoyama S., et al. X-linked thrombocytopenia in a girl. Br. J. Haematol. 2002, 118:1163-1165.
33. Parolini O., Ressmann G., Haas O.A., et al. X-linked Wiskott-Aldrich syndrome in a girl. N. Engl. J. Med. 1998, 338:291-295.
34. Sharp A., Robinson D., Jacobs P. Age- and tissue-specific variation of X chromosome inactivation ratios in normal women. Hum. Genet. 2000, 107:343-349.
35. Brockdorff N., Ashworth A., Kay G.F., et al. Conservation of position and exclusive expression of mouse Xist from the inactive X chromosome. Nature 1991, 351:329-331.
36. Avner P., Heard E. X-chromosome inactivation: counting, choice and initiation. Nat. Rev. Genet. 2001, 2:59-67.