Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells
- PMID: 10878391
- DOI: 10.4049/jimmunol.165.2.1119
Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells
Abstract
The Wiskott-Aldrich syndrome (WAS) is caused by defects in the WAS protein (WASP) gene on the X chromosome. Previous study disclosed that flow cytometric analysis of intracellular WASP expression (FCM-WASP analysis) in lymphocytes was useful for the diagnosis of WAS patients. Lymphocytes from all WAS patients showed WASPdim instead of WASPbright. Here we report that FCM-WASP analysis in monocytes could be a useful tool for the WAS carrier diagnosis. Monocytes from all nine WAS carriers showed varied population of WASPdim together with WASPbright. None of control individuals possessed the WASPdim population. In contrast, lymphocytes from all the carriers except two lacked the WASPdim population. The difference of the WASPdim population in monocytes and lymphocytes observed in WAS carriers suggests that WASP plays a more critical role in the development of lymphocytes than in that of monocytes. The present studies suggest that a skewed X-chromosomal inactivation pattern observed in WAS carrier peripheral blood cells is not fixed at the hemopoietic stem cell level but progresses after the lineage commitment.
Similar articles
-
Wiskott-Aldrich syndrome in a female.Blood. 2002 Oct 15;100(8):2763-8. doi: 10.1182/blood-2002-02-0388. Blood. 2002. PMID: 12351383
-
Mixed chimera status of 12 patients with Wiskott-Aldrich syndrome (WAS) after hematopoietic stem cell transplantation: evaluation by flow cytometric analysis of intracellular WAS protein expression.Blood. 2002 Aug 15;100(4):1208-14. doi: 10.1182/blood-2002-01-0211. Blood. 2002. PMID: 12149199
-
Flow cytometric determination of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations.J Immunol Methods. 2002 Feb 1;260(1-2):195-205. doi: 10.1016/s0022-1759(01)00549-x. J Immunol Methods. 2002. PMID: 11792389
-
WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome.Pediatr Int. 2016 Jan;58(1):4-7. doi: 10.1111/ped.12819. Epub 2015 Dec 5. Pediatr Int. 2016. PMID: 26331277 Review.
-
The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.Annu Rev Immunol. 1999;17:905-29. doi: 10.1146/annurev.immunol.17.1.905. Annu Rev Immunol. 1999. PMID: 10358777 Review.
Cited by
-
Wiskott-Aldrich syndrome with unusual clinical features similar to juvenile myelomonocytic leukemia.Int J Hematol. 2012 Aug;96(2):279-83. doi: 10.1007/s12185-012-1130-x. Epub 2012 Jun 27. Int J Hematol. 2012. PMID: 22736231
-
Wiskott-Aldrich syndrome: diagnosis, current management, and emerging treatments.Appl Clin Genet. 2014 Apr 3;7:55-66. doi: 10.2147/TACG.S58444. eCollection 2014. Appl Clin Genet. 2014. PMID: 24817816 Free PMC article. Review.
-
Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.Int J Hematol. 2003 Jul;78(1):40-4. doi: 10.1007/BF02983238. Int J Hematol. 2003. PMID: 12894849
-
Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models.Mol Ther. 2009 Jun;17(6):1073-82. doi: 10.1038/mt.2009.31. Epub 2009 Mar 3. Mol Ther. 2009. PMID: 19259069 Free PMC article.
-
Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.Proc Natl Acad Sci U S A. 2001 Jul 17;98(15):8697-702. doi: 10.1073/pnas.151260498. Epub 2001 Jul 10. Proc Natl Acad Sci U S A. 2001. PMID: 11447283 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
