Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Wiskott-Aldrich-Syndrom

Das Wiskott-Aldrich-Syndrom ist eine x-chromosomal rezessive Erkrankung die durch Mutationen im WAS-Gen hervorgerufen wird. Klinisch äußert sich die Erkrankung durch Ekzem, Thrombozytopenie und Immundefekten. Aufgrund der Immunschwäche und der Gerinnungsstörung kommt es begleitend zu blutigen Durchfällen.

Epidemiologie

Die Inzidenz unter männlichen Lebendgeborenen liegt zwischen 1:100.000 und 1:250.000.

Management

Eine kausale und eine symptomatische Therapie sind zu unterscheiden. Die kausale Therapie besteht in einer Stammzelltransplantation; die symptomatische in einer konsequenten antibiotischen Therapie von Infektionen und Blutstillung.

Gliederung

Primärer Immundefekt
Achondroplasie-SCID-Syndrom
Autoinflammation, Antikörpermangel und Immundysregulations-Syndrom
Disposition für Infektionen
IRAK4-Mangel
Immundefekt 20
Immundefekt 21
Immundefekt 31A
Immundefekt 31B
Immundefekt 31C
Immundefekt 33
Immundefekt 38
Immundefekt 41
Immundefekt 51
Immundefekt 68
Immundefekt 69
Immundefekt 74, COVID-19-Anfälligkeit
Kongenitale sideroblastische Anämie-B-Zell-Immundefekt-periodisches Fieber-Entwicklungsverzögerungs-Syndrom
Syndrom der zentromeren Instabilität mit Immundefizienz und Gesichtsfehlbildungen
Variable Immunmangel Typ 7
Vaskulitis durch ADA2-Mangel
Wiskott-Aldrich-Syndrom
WAS

Referenzen:

1.

Meropol NJ et al. (1992) Coincident Kaposi sarcoma and T-cell lymphoma in a patient with the Wiskott-Aldrich syndrome.

external link
2.

Schwartz M et al. (1989) First-trimester diagnosis of Wiskott-Aldrich syndrome by DNA markers.

external link
3.

de Saint Basile G et al. (1989) Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.

external link
4.

Notarangelo LD et al. (1991) Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia.

external link
5.

Arveiler B et al. (1990) Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.

external link
6.

Brochstein JA et al. (1991) Marrow transplantation from human leukocyte antigen-identical or haploidentical donors for correction of Wiskott-Aldrich syndrome.

external link
7.

De Saint-Basile G et al. (1991) X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.

external link
8.

Notarangelo LD et al. (1991) Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS.

external link
9.

Kwan SP et al. (1991) Localization of the gene for the Wiskott-Aldrich syndrome between two flanking markers, TIMP and DXS255, on Xp11.22-Xp11.3.

external link
10.

Simon HU et al. (1992) Evidence for defective transmembrane signaling in B cells from patients with Wiskott-Aldrich syndrome.

external link
11.

Greer WL et al. (1992) The Wiskott-Aldrich syndrome: refinement of the localization on Xp and identification of another closely linked marker locus, OATL1.

external link
12.

Fischer A et al. (1986) Bone-marrow transplantation for immunodeficiencies and osteopetrosis: European survey, 1968-1985.

external link
13.

Filipovich AH et al. (1979) Fatal arteritis as a complication of Wiskott-Aldrich syndrome.

external link
14.

Parkman R et al. (1978) Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone-marrow transplantation.

external link
15.

Shapiro RS et al. (1978) Wiskott-Aldrich syndrome: detection of carrier state by metabolic stress of platelets.

external link
16.

Boztug K et al. (2010) Stem-cell gene therapy for the Wiskott-Aldrich syndrome.

external link
17.

Puck JM et al. (2006) Lessons from the Wiskott-Aldrich syndrome.

external link
18.

VAN DEN BOSCH J et al. (1964) [THE ALDRICH SYNDROME; A CLINICAL AND GENETIC STUDY OF SEVERAL DUTCH FAMILIES].

external link
19.

GELZER J et al. (1961) [Wiskott-Aldrich syndrome].

external link
20.

None (1959) Methodology in human genetics.

external link
21.

Yamada M et al. (2000) Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cells.

external link
22.

Bach FH et al. (1968) Bone-marrow transplantation in a patient with the Wiskott-Aldrich syndrome.

external link
23.

Ochs HD et al. (1980) The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets.

external link
24.

Parkman R et al. () Surface protein abnormalities in lymphocytes and platelets from patients with Wiskott-Aldrich syndrome.

external link
25.

Gealy WJ et al. (1980) Allelic exclusion of glucose-6-phosphate dehydrogenase in platelets and T lymphocytes from a Wiskott-Aldrich syndrome carrier.

external link
26.

ten Bensel RW et al. (1966) The development of malignancy in the course of the Aldrich syndrome.

external link
27.

Levin AS et al. (1970) Wiskott-Aldrich syndrome, a genetically determined cellular immunologic deficiency: clinical and laboratory responses to therapy with transfer factor.

external link
28.

Blaese RM et al. (1971) Hypercatabolism of IgG, IgA, IgM, and albumin in the Wiskott-Aldrich syndrome. A unique disorder of serum protein metabolism.

external link
29.

Gutenberger J et al. (1970) Familial thrombocytopenia, elevated serum IgA levels and renal disease. A report of a kindred.

external link
30.

Diaz-Buxo JA et al. (1974) Wiskott-Aldrich syndrome in an adult.

external link
31.

McEnery G et al. (1973) Wiskott-Aldrich syndrome associated with idiopathic infantile cortical hyperostosis (Caffey's disease).

external link
32.

Weiden PL et al. (1972) Hereditary thrombocytopenia: relation to Wiskott-Aldrich syndrome with special reference to splenectomy. Report of a family and review of the literature.

external link
33.

Wengler G et al. (1995) Nonrandom inactivation of the X chromosome in early lineage hematopoietic cells in carriers of Wiskott-Aldrich syndrome.

external link
34.

Blaese RM et al. (1968) The Wiskott-Aldrich syndrome. A disorder with a possible defect in antigen processing or recognition.

external link
35.

Cooper MD et al. (1968) Wiskott-Aldrich syndrome. An immunologic deficiency disease involving the afferent limb of immunity.

external link
36.

None (1967) Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations.

external link
37.

Corash L et al. (1985) Platelet-associated immunoglobulin, platelet size, and the effect of splenectomy in the Wiskott-Aldrich syndrome.

external link
38.

Standen GR et al. (1986) Inherited thrombocytopenia, elevated serum IgA and renal disease: identification as a variant of the Wiskott-Aldrich syndrome.

external link
39.

Mentzer SJ et al. (1987) Sialophorin, a surface sialoglycoprotein defective in the Wiskott-Aldrich syndrome, is involved in human T lymphocyte proliferation.

external link
40.

Peacocke M et al. (1987) Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome.

external link
41.

Fearon ER et al. (1988) Carrier detection in the Wiskott Aldrich syndrome.

external link
42.

Abinun M et al. (1988) Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome.

external link
43.

Parolini O et al. (1998) X-linked Wiskott-Aldrich syndrome in a girl.

external link
44.

ALDRICH RA et al. (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea.

external link
45.

Wada T et al. (2003) Second-site mutation in the Wiskott-Aldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings.

external link
46.

Sasahara Y et al. (2002) Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation.

external link
47.

Lutskiy MI et al. (2002) Wiskott-Aldrich syndrome in a female.

external link
48.

Wada T et al. (2001) Somatic mosaicism in Wiskott--Aldrich syndrome suggests in vivo reversion by a DNA slippage mechanism.

external link
49.

Devriendt K et al. (2001) Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia.

external link
50.

Thompson LJ et al. () Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

external link
51.

Lemahieu V et al. (1999) Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

external link
52.

Waisfisz Q et al. (1999) Spontaneous functional correction of homozygous fanconi anaemia alleles reveals novel mechanistic basis for reverse mosaicism.

external link
53.

Puck JM et al. (1998) X inactivation in females with X-linked disease.

external link
54.

Giliani S et al. (1999) Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis.

external link
55.

Greer WL et al. (1996) Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome.

external link
56.

Schindelhauer D et al. (1996) Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

external link
57.

Derry JM et al. (1995) The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome.

external link
58.

Kolluri R et al. (1996) Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42.

external link
59.

Symons M et al. (1996) Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization.

external link
60.

Derry JM et al. (1994) Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

external link
61.

Villa A et al. (1995) X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

external link
62.

Kwan SP et al. (1995) Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

external link
63.

Lyon MF et al. (1990) The scurfy mouse mutant has previously unrecognized hematological abnormalities and resembles Wiskott-Aldrich syndrome.

external link
64.

Du W et al. (2006) A second-site mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an Wiskott-Aldrich syndrome patient.

external link
65.

Yamada M et al. (1999) Flow cytometric analysis of Wiskott-Aldrich syndrome (WAS) protein in lymphocytes from WAS patients and their familial carriers.

external link
66.

Notarangelo LD et al. (1993) Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS).

external link
67.

Knox-Macaulay HH et al. (1993) X linked recessive thrombocytopenia.

external link
68.

Sullivan KE et al. (1994) A multiinstitutional survey of the Wiskott-Aldrich syndrome.

external link
69.

Prchal JT et al. (1980) Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection.

external link
70.

Spitler LE et al. (1980) Nephropathy in the Wiskott-Aldrich syndrome.

external link
71.

Perry GS et al. (1980) The Wiskott-Aldrich syndrome in the United States and Canada (1892-1979).

external link
72.

Kapoor N et al. (1981) Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide.

external link
73.

Hutter JJ et al. (1981) Results of a thymic epithelial transplant in a child with Wiskott-Aldrich syndrome and central nervous system lymphoma.

external link
74.

Holmberg L et al. (1983) A prenatal study of fetal platelet count and size with application to fetus at risk for Wiskott-Aldrich syndrome.

external link
75.

None (1980) Splenectomy in the Wiskott-Aldrich syndrome.

external link
76.

Lum LG et al. (1980) Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome.

external link
77.

Remold-O'Donnell E et al. (1984) Characterization of a human lymphocyte surface sialoglycoprotein that is defective in Wiskott-Aldrich syndrome.

external link
78.

Kwan SP et al. (1988) Genetic mapping of the Wiskott-Aldrich syndrome with two highly-linked polymorphic DNA markers.

external link
79.

Greer WL et al. (1989) Linkage studies of the Wiskott-Aldrich syndrome: polymorphisms at TIMP and the X chromosome centromere are informative markers for genetic prediction.

external link
80.

Greer WL et al. (1990) Linkage relationships of the Wiskott-Aldrich syndrome to 10 loci in the pericentromeric region of the human X chromosome.

external link
81.

Boztug K et al. (2008) Multiple independent second-site mutations in two siblings with somatic mosaicism for Wiskott-Aldrich syndrome.

external link
82.

Dobbs AK et al. (2007) A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

external link
83.

Binder V et al. (2006) The genotype of the original Wiskott phenotype.

external link
84.

Wada T et al. (2004) Multiple patients with revertant mosaicism in a single Wiskott-Aldrich syndrome family.

external link
85.

Orphanet article

Orphanet ID 906 external link
86.

OMIM.ORG article

Omim 301000 external link
87.

Wikipedia Artikel

Wikipedia DE (Wiskott-Aldrich-Syndrom) external link
Update: 14. August 2020
Copyright © 2005-2024 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz | Impressum