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Wiskott-Aldrich syndrome, attenuated

MedGen UID:
864918
•Concept ID:
C4016481
•
Finding
Synonym: WISKOTT-ALDRICH SYNDROME, ATTENUATED
 
OMIM®: 300392

Professional guidelines

PubMed

Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, Song WX, Zhao XD
Pediatr Blood Cancer 2015 Sep;62(9):1601-8. Epub 2015 Apr 30 doi: 10.1002/pbc.25559. PMID: 25931402

Recent clinical studies

Etiology

Inhibition of profibrotic microRNA-21 affects platelets and their releasate.
Barwari T, Eminaga S, Mayr U, Lu R, Armstrong PC, Chan MV, Sahraei M, Fernández-Fuertes M, Moreau T, Barallobre-Barreiro J, Lynch M, Yin X, Schulte C, Baig F, Pechlaner R, Langley SR, Zampetaki A, Santer P, Weger M, Plasenzotti R, Schosserer M, Grillari J, Kiechl S, Willeit J, Shah AM, Ghevaert C, Warner TD, Fernández-Hernando C, Suárez Y, Mayr M
JCI Insight 2018 Nov 2;3(21) doi: 10.1172/jci.insight.123335. PMID: 30385722Free PMC Article
Somatic mosaicism in primary immune deficiencies.
Wada T, Candotti F
Curr Opin Allergy Clin Immunol 2008 Dec;8(6):510-4. doi: 10.1097/ACI.0b013e328314b651. PMID: 18978464
Microarray analysis reveals characteristic changes of host cell gene expression in response to attenuated modified vaccinia virus Ankara infection of human HeLa cells.
Guerra S, López-Fernández LA, Conde R, Pascual-Montano A, Harshman K, Esteban M
J Virol 2004 Jun;78(11):5820-34. doi: 10.1128/JVI.78.11.5820-5834.2004. PMID: 15140980Free PMC Article
Mucin-type O-glycans and leukosialin.
Fukuda M, Tsuboi S
Biochim Biophys Acta 1999 Oct 8;1455(2-3):205-17. doi: 10.1016/s0925-4439(99)00067-8. PMID: 10571013

Diagnosis

Inborn errors of immunity and related microbiome.
Hazime R, Eddehbi FE, El Mojadili S, Lakhouaja N, Souli I, Salami A, M'Raouni B, Brahim I, Oujidi M, Guennouni M, Bousfiha AA, Admou B
Front Immunol 2022;13:982772. Epub 2022 Sep 13 doi: 10.3389/fimmu.2022.982772. PMID: 36177048Free PMC Article
A case of early recurrent immunoglobulin A nephropathy and T-cell-mediated rejection in a transplant patient with Wiskott-Aldrich syndrome.
Yamaguchi K, Kitamura M, Kawaguchi Y, Hayashi K, Muta K, Nakazawa M, Matsuda T, Onita T, Nishikido M, Sakai H, Mukae H, Nishino T
CEN Case Rep 2022 Feb;11(1):60-66. Epub 2021 Jul 25 doi: 10.1007/s13730-021-00631-9. PMID: 34304384Free PMC Article
Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.
Kolluri R, Shehabeldin A, Peacocke M, Lamhonwah AM, Teichert-Kuliszewska K, Weissman SM, Siminovitch KA
Hum Mol Genet 1995 Jul;4(7):1119-26. doi: 10.1093/hmg/4.7.1119. PMID: 8528198
A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms.
Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M
J Investig Med 1995 Apr;43(2):159-69. PMID: 7735919
Attenuated form of Wiskott-Aldrich syndrome.
Amaya CA, Dorantes S, Toro AH, Bello A, Cuëllar J
J Pediatr 1973 Jan;82(1):175-6. doi: 10.1016/s0022-3476(73)80056-3. PMID: 4681866

Therapy

Inhibition of profibrotic microRNA-21 affects platelets and their releasate.
Barwari T, Eminaga S, Mayr U, Lu R, Armstrong PC, Chan MV, Sahraei M, Fernández-Fuertes M, Moreau T, Barallobre-Barreiro J, Lynch M, Yin X, Schulte C, Baig F, Pechlaner R, Langley SR, Zampetaki A, Santer P, Weger M, Plasenzotti R, Schosserer M, Grillari J, Kiechl S, Willeit J, Shah AM, Ghevaert C, Warner TD, Fernández-Hernando C, Suárez Y, Mayr M
JCI Insight 2018 Nov 2;3(21) doi: 10.1172/jci.insight.123335. PMID: 30385722Free PMC Article
Wiskott-Aldrich syndrome: fatal consequences of splenectomy in an unrecognised attenuated variant.
Standen GR, Orchard JA, Hutton RD
Br J Clin Pract 1990 Aug;44(8):338-9. PMID: 2206845

Prognosis

A case of early recurrent immunoglobulin A nephropathy and T-cell-mediated rejection in a transplant patient with Wiskott-Aldrich syndrome.
Yamaguchi K, Kitamura M, Kawaguchi Y, Hayashi K, Muta K, Nakazawa M, Matsuda T, Onita T, Nishikido M, Sakai H, Mukae H, Nishino T
CEN Case Rep 2022 Feb;11(1):60-66. Epub 2021 Jul 25 doi: 10.1007/s13730-021-00631-9. PMID: 34304384Free PMC Article
WASH overexpression enhances cancer stem cell properties and correlates with poor prognosis of esophageal carcinoma.
Huang L, Lian J, Chen X, Qin G, Zheng Y, Zhang Y
Cancer Sci 2017 Dec;108(12):2358-2365. Epub 2017 Sep 26 doi: 10.1111/cas.13400. PMID: 28914471Free PMC Article
Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: Clinical characteristic and genotype-phenotype correlation.
Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, Song WX, Zhao XD
Pediatr Blood Cancer 2015 Sep;62(9):1601-8. Epub 2015 Apr 30 doi: 10.1002/pbc.25559. PMID: 25931402
A large kindred with X-linked neutropenia with an I294T mutation of the Wiskott-Aldrich syndrome gene.
Beel K, Cotter MM, Blatny J, Bond J, Lucas G, Green F, Vanduppen V, Leung DW, Rooney S, Smith OP, Rosen MK, Vandenberghe P
Br J Haematol 2009 Jan;144(1):120-6. Epub 2008 Nov 1 doi: 10.1111/j.1365-2141.2008.07416.x. PMID: 19006568Free PMC Article
Mosaicism of NK cells in a patient with Wiskott-Aldrich syndrome.
Lutskiy MI, Beardsley DS, Rosen FS, Remold-O'Donnell E
Blood 2005 Oct 15;106(8):2815-7. Epub 2005 Jun 28 doi: 10.1182/blood-2004-12-4724. PMID: 15985539Free PMC Article

Clinical prediction guides

The mouse homolog of the mutant WASp responsible for human X-linked neutropenia renders granulopoiesis ineffective.
Ikeda M, Futami M, Chanda B, Kobayashi M, Izawa K, Tojo A
Biochem Biophys Res Commun 2022 Sep 24;622:177-183. Epub 2022 Jul 14 doi: 10.1016/j.bbrc.2022.07.037. PMID: 35932529
A lateral protrusion latticework connects neuroepithelial cells and is regulated during neurogenesis.
Kasioulis I, Dady A, James J, Prescott A, Halley PA, Storey KG
J Cell Sci 2022 Mar 15;135(6) Epub 2022 Mar 30 doi: 10.1242/jcs.259897. PMID: 35217862Free PMC Article
A case of early recurrent immunoglobulin A nephropathy and T-cell-mediated rejection in a transplant patient with Wiskott-Aldrich syndrome.
Yamaguchi K, Kitamura M, Kawaguchi Y, Hayashi K, Muta K, Nakazawa M, Matsuda T, Onita T, Nishikido M, Sakai H, Mukae H, Nishino T
CEN Case Rep 2022 Feb;11(1):60-66. Epub 2021 Jul 25 doi: 10.1007/s13730-021-00631-9. PMID: 34304384Free PMC Article
Decreased expression of Wiskott-Aldrich syndrome protein family verprolin-homologous protein 2 may be involved in the development of pre-eclampsia.
Li J, Luo X, Xiao X, Zhang X, Qi H, Liu X, Zhang H, Gao L, Yang Z
Reprod Biomed Online 2014 Jan;28(1):70-9. Epub 2013 Aug 27 doi: 10.1016/j.rbmo.2013.07.015. PMID: 24125947
A diagnostic assay for the Wiskott-Aldrich syndrome and its variant forms.
Siminovitch KA, Greer WL, Novogrodsky A, Axelsson B, Somani AK, Peacocke M
J Investig Med 1995 Apr;43(2):159-69. PMID: 7735919

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