Display options
Cite
Jiang J, Zhou J, Wei M, et al. Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families. Scand J Immunol. 2021;e13115doi: 10.1111/sji.13115.
Jiang, J., Zhou, J., Wei, M., Singh, S., Nikuze, L., Huang, L., Li, Y., Jiang, J., & Wei, H. (2021). Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families. Scandinavian journal of immunology, e13115. https://doi.org/10.1111/sji.13115
Jiang, Jiali, et al. "Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families." Scandinavian journal of immunology vol. (2021): e13115. doi: https://doi.org/10.1111/sji.13115
Jiang J, Zhou J, Wei M, Singh S, Nikuze L, Huang L, Li Y, Jiang J, Wei H. Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families. Scand J Immunol. 2021 Nov 10;e13115. doi: 10.1111/sji.13115. Epub 2021 Nov 10. PMID: 34758123.
Copy Download .nbib Format: NLM
Share it on

Scand J Immunol. 2021 Nov 10;e13115. doi: 10.1111/sji.13115. Epub 2021 Nov 10.

Clinical and molecular characteristics of Wiskott-Aldrich Syndrome in five unrelated Chinese families.

Scandinavian journal of immunology

Jiali Jiang, Junli Zhou, Manlv Wei, Sanjeev Singh, Lauriane Nikuze, Lifang Huang, Yuping Li, Jinxia Jiang, Hongying Wei

Affiliations

  1. Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
  2. Department of Pediatrics, Xiamen Children's Hospital Affiliated to Fudan University, Xiamen, China.

PMID: 34758123 DOI: 10.1111/sji.13115

Abstract

Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).

© 2021 The Scandinavian Foundation for Immunology.

Keywords: Wiskott-Aldrich syndrome; Wiskott-Aldrich syndrome protein; primary immunodeficiency

References

  1. Wiskott A. Familia ¨rer, angeborener morbus Werlhofii? Monatsschr Kind-erheilkd. 1937;68:212-216. - PubMed
  2. Aldrich RA, Steinberg AG, Campbell DC. Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics. 1954;13(2):133-139. - PubMed
  3. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78(4):635-644. - PubMed
  4. Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci. 2013;1285:26-43. - PubMed
  5. Thrasher AJ, Burns SO. WASP: a key immunological multitasker. Nat Rev Immunol. 2010;10(3):182-192. - PubMed
  6. Sun X, Wei Y, Lee PP, Ren B, Liu C. The role of WASp in T cells and B cells. Cell Immunol. 2019;341:103919. - PubMed
  7. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104(13):4010-4019. - PubMed
  8. Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood. 1997;90(7):2680-2689. - PubMed
  9. Moratto D, Giliani S, Notarangelo LD, Mazza C, Mazzolari E, Notarangelo LD. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol. 2007;3(5):813-824. - PubMed
  10. Wengler G, Gorlin JB, Williamson JM, Rosen FS, Bing DH. Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome. Blood. 1995;85(9):2471-2477. - PubMed
  11. Candotti F. Clinical manifestations and pathophysiological mechanisms of the Wiskott-Aldrich syndrome. J Clin Immunol. 2018;38(1):13-27. - PubMed
  12. Li W, Liu D, Zhang X, Ding Y, Zhao X. Clinical features and genotype analysis of 132 patients with Wiskott-Aldrich syndrome. Zhonghua Er Ke Za Zhi. 2015;53(12):925-930. - PubMed
  13. Recher M, Burns SO, de la Fuente MA, et al. B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood. 2012;119(12):2819-2828. - PubMed
  14. Kirchhausen T, Rosen FS. Disease mechanism: unravelling Wiskott-Aldrich syndrome. Curr Biol. 1996;6(6):676-678. - PubMed
  15. Kim AS, Kakalis LT, Abdul-Manan N, Liu GA, Rosen MK. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature. 2000;404(6774):151-158. - PubMed
  16. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103(2):456-464. - PubMed
  17. Lemahieu V, Gastier JM, Francke U. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Hum Mutat. 1999;14(1):54-66. - PubMed
  18. Moratto D, Giliani S, Bonfim C, et al. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011;118(6):1675-1684. - PubMed
  19. Aiuti A, Biasco L, Scaramuzza S, et al. Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome. Science. 2013;341(6148):1233151. - PubMed

Publication Types