173
Views
0
CrossRef citations to date
0
Altmetric
Case Reports

Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia

, , ORCID Icon, , , & ORCID Icon show all
Pages 792-796 | Received 29 Jul 2021, Accepted 28 Sep 2021, Published online: 27 Oct 2021

References

  • Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol 2011;18(1):42–48. doi:10.1097/MOH.0b013e32834114bc.
  • Ochs HD, Thrasher AJ. The Wiskott-Aldrich syndrome. J Allergy Clin Immunol 2006;117(4):725–738. quiz 39. doi:10.1016/j.jaci.2006.02.005.
  • Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant 2009;15(1 Suppl):84–90. doi:10.1016/j.bbmt.2008.10.007.
  • Jin YY, Wu J, Chen TX, Chen J. When WAS gene diagnosis is needed: seeking clues through comparison between patients with Wiskott-Aldrich syndrome and idiopathic thrombocytopenic purpura. Front Immunol 2019;10:1549. doi:10.3389/fimmu.2019.01549.
  • Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, Espanol T, Fasth A, Pellier I, Strauss G, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood 2010;115(16):3231–3238. doi:10.1182/blood-2009-09-239087.
  • Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997;90(7):2680–2689. doi:10.1182/blood.V90.7.2680.
  • Burroughs LM, Petrovic A, Brazauskas R, Liu X, Griffith LM, Ochs HD, Bleesing JJ, Edwards S, Dvorak CC, Chaudhury S, et al. Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report. Blood 2020;135(23):2094–2105. doi:10.1182/blood.2019002939.
  • Kreetapirom P, Hongeng S, Manuyakorn W, Anurathapan U, Pakakasama S, Sirachainan N, Andersson BS, et al. Successful HLA haploidentical HSCT with post-transplant cyclophosphamide in Wiskott-Aldrich syndrome. Bone Marrow Transplant 2017;52(6):913–914. doi:10.1038/bmt.2017.25.
  • Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the association for molecular pathology. Genet Med 2015;17(5):405–424. doi:10.1038/gim.2015.30.
  • Massaad MJ, Ramesh N, Geha RS. Wiskott-Aldrich syndrome: a comprehensive review. Ann N Y Acad Sci 2013;1285:26–43. doi:10.1111/nyas.12049.
  • Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol 2005;12(4):284–291. doi:10.1097/01.moh.0000168520.98990.19.
  • Perry GS 3rd, Spector BD, Schuman LM, Mandel JS, Anderson VE, McHugh RB, Hanson MR, Fahlstrom SM, Krivit W, Kersey JH, et al. The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979). J Pediatr 1980;97(1):72–78. doi:10.1016/S0022-3476(80)80133-8.
  • Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA. A multiinstitutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994;125(6 Pt 1):876–885. doi:10.1016/S0022-3476(05)82002-5.
  • Suri D, Rikhi R, Jindal AK, Rawat A, Sudhakar M, Vignesh P, Gupta A, Kaur A, Sharma J, Ahluwalia J, et al. Wiskott Aldrich syndrome: a multi-institutional experience from India. Front Immunol 2021;12:627651. doi:10.3389/fimmu.2021.627651.
  • Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, Song W-X, Zhao X-D, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: clinical characteristic and genotype-phenotype correlation. Pediatr Blood Cancer 2015;62(9):1601–1608. doi:10.1002/pbc.25559.
  • Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova J-L, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003;111(5 Pt 1):e622–7. doi:10.1542/peds.111.5.e622.
  • Ho LL, Ayling J, Prosser I, Kronenberg H, Iland H, Joshua D. Missense C168T in the Wiskott–Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia. Br J Haematol 2001;112(1):76–80. doi:10.1046/j.1365-2141.2001.02465.x.
  • Medina SS, Siqueira LH, Colella MP, Yamaguti-Hayakawa GG, Duarte BKL, Dos Santos Vilela MM, Ozelo MC, et al. Intermittent low platelet counts hampering diagnosis of X-linked thrombocytopenia in children: report of two unrelated cases and a novel mutation in the gene coding for the Wiskott-Aldrich syndrome protein. BMC Pediatr 2017;17(1):151. doi:10.1186/s12887-017-0897-6.
  • Huo XL, Wang B, Zhang GJ, Ma JP, Wang L, Zhang LW, Xu X-Y, Li X-J, Li H, Li D, et al. Adverse factors of treatment response and overall survival in pediatric and adult patients with pineoblastoma. Cancer Manag Res 2020;12:7343–7351. doi:10.2147/CMAR.S258476.
  • Gabelli M, Marzollo A, Notarangelo LD, Basso G, Putti MC. Eltrombopag use in a patient with Wiskott-Aldrich syndrome. Pediatr Blood Cancer 2017;64:12. doi:10.1002/pbc.26692.
  • Gerrits AJ, Leven EA, Frelinger AL 3rd, Brigstocke SL, Berny-Lang MA, Mitchell WB, Revel-Vilk S, Tamary H, Carmichael SL, Barnard MR, et al. Effects of eltrombopag on platelet count and platelet activation in Wiskott-Aldrich syndrome/X-linked thrombocytopenia. Blood 2015;126(11):1367–1378. doi:10.1182/blood-2014-09-602573.
  • Zaninetti C, Gresele P, Bertomoro A, Klersy C, De Candia E, Veneri D, Barozzi S, Fierro T, Alberelli MA, Musella V, et al. Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial. Haematologica 2020;105(3):820–828. doi:10.3324/haematol.2019.223966.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.