The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7,

scientific article published on 10 August 2007

The phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1047410225
P356DOI10.1007/S10875-007-9121-Z
P698PubMed publication ID17690954

P2093author name stringDavid L Nelson
Fabio Candotti
Donn M Stewart
P2860cites workGene therapy of human severe combined immunodeficiency (SCID)-X1 diseaseQ28143064
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasiaQ28202460
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversionQ28303984
Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutationQ30630015
Retrovirus-mediated WASP gene transfer corrects defective actin polymerization in B cell lines from Wiskott-Aldrich syndrome patients carrying 'null' mutations.Q33329794
Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlationQ33361928
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same geneQ33488546
Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblingsQ34984944
Mosaicism of NK cells in a patient with Wiskott-Aldrich syndromeQ35848382
Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.Q37111771
Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defectQ40304312
Self-induced correction of the genetic defect in tyrosinemia type IQ40341120
Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndromeQ40714972
T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.Q45866838
Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.Q47606166
A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.Q54028385
Spontaneous functional correction of homozygous Fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicismQ57436562
Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T CellsQ63859659
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiencyQ71167703
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significanceQ73629570
X-linked ectodermal dysplasia and immunodeficiency caused by reversion mosaicism of NEMO reveals a critical role for NEMO in human T-cell development and/or survivalQ75272845
Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriersQ77361936
Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1Q79631492
P433issue6
P921main subjectWiskott-Aldrich syndromeQ953638
P304page(s)634-639
P577publication date2007-08-10
P1433published inJournal of Clinical ImmunologyQ6294961
P1476titleThe phenomenon of spontaneous genetic reversions in the Wiskott-Aldrich syndrome: a report of the workshop of the ESID Genetics Working Party at the XIIth Meeting of the European Society for Immunodeficiencies (ESID). Budapest, Hungary October 4-7, 2006
P478volume27

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cites work (P2860)
Q36101320Autoimmunity in wiskott-Aldrich syndrome: an unsolved enigma
Q45873782Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.
Q33383530Evidence for long-term efficacy and safety of gene therapy for Wiskott-Aldrich syndrome in preclinical models
Q33378512Evolution of highly polymorphic T cell populations in siblings with the Wiskott-Aldrich Syndrome
Q35946132Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.
Q33389727Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment
Q34400271Induced pluripotent stem cells in dermatology: potentials, advances, and limitations
Q38191164Laboratory diagnosis of primary immunodeficiencies
Q28741264Revertant mosaicism in skin: natural gene therapy
Q83158779Revertant somatic mosaicism in the Wiskott-Aldrich syndrome
Q38364694Signal Integration during T Lymphocyte Activation and Function: Lessons from the Wiskott-Aldrich Syndrome
Q92667865Somatic genetic rescue in Mendelian haematopoietic diseases
Q36969817WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function

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