Wiskott-Aldrich Syndrome, Autosomal Dominant Form

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

WAS, WIPF1, FOXP3, ACTB, SPN, ACTR2, AICDA, ANGPTL2, FUT1, ADA, TIMP1, CD34, IL2, NOL3, WASF1, CD28, OTC, WASL, DOCK8, G6PD, BTK, TBX21, CDC42, CD19, TBC1D25, USF2, THPO, ZNF182, CXCL12, TFE3

WAS, WIPF1, FOXP3, ACTB, SPN, ACTR2, AICDA, ANGPTL2, FUT1, ADA, TIMP1, CD34, IL2, NOL3, WASF1, CD28, OTC, WASL, DOCK8, G6PD, BTK, TBX21, CDC42, CD19, TBC1D25, USF2, THPO, ZNF182, CXCL12, TFE3, CXCR4, TRBV20OR9-2, UBL4A, ATXN2, SYP, ACTR3, BCAR1, NELFCD, G6PC3, MIB1, VPS35, INTS8, QRSL1, NCKIPSD, ICOS, ARPC1B, CCNDBP1, WASF3, TNFSF13B, CIB1, HAX1, RAC2, RAG1, PFN1, PTK2, FCER2, CTTN, ELANE, CSF2, CSF1, CR2, COX8A, CD69, CD40LG, CD27, CASP3, CAST, SLC25A20, CA2, C4BPA, BCL6, AR, FAS, FBN1, FCGR2B, PSMA7, FLNA, PPARG, PKD2, PGK1, NFATC2, NFATC1, NCK1, LY6E, LIG4, ITGB3, ISG20, IL6, IL4, IL2RG, IL2RA, IGHG3, NCKAP1L, GFI1, WIPF2

Drugs

Allogeneic multi-virus specific T lymphocytes targeting BK virus, cytomegalovirus, human herpesvirus-6, Epstein Barr virus and adenovirus, Autologous CD34+ cells transduced with the W1.6_hWASP_WPRE lentiviral vector, Autologous CD34+ cells transfected with lentiviral vector containing the Wiskott-Aldrich syndrome protein gene, Lentiviral vector containing the human Wiskott Aldrich syndrome protein gene, haematopoietic stem cells and blood progenitors umbilical cord-derived expanded with (1R, 4R)-N1-(2-benzyl-7-(2-methyl-2H-tetrazol-5-yl)-9H-pyrimido[4,5-b]indol-4-yl)cyclohexane-1,4-diamine dihydrobromide dihydrate

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Neri et al. (1995) raised the possibility of an autosomal dominant form of Wiskott-Aldrich syndrome on the basis of a 3-generation family in which several members presented clinical and laboratory findings of WAS (301000), including decreased CD43 expression on T lymphocytes. The gene for CD43, or sialophorin (SPN; 182160), is located on 16p11.2. However, no alteration of CD43 was found: Southern blot analysis failed to detect gross abnormalities of the CD43 gene and genotype analysis showed that the affected family members did not share a common CD43 allele.