Wiskott-Aldrich syndromeD82.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 24.03.2022

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Synonym(s)

Aldrich Syndrome; eczema-thrombo-cytopenia-immunodeficiency syndrome; familial thrombocytopenia with eczema and susceptibility to infection; Thrombocytopenia familial with eczema and susceptibility to infection

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HistoryThis section has been translated automatically.

Alfred Wiskott 1937 , Robert Aldrich 1954

DefinitionThis section has been translated automatically.

Rare, X-linked recessive combination of thrombocytopenia (bleeding tendency), eczema and T-cellular immunodeficiency (susceptibility to infection). See also Immunodeficiencies, T-cellular, primary.

Occurrence/EpidemiologyThis section has been translated automatically.

Incidence: approx. 2-4/1,000,000 births.

EtiopathogenesisThis section has been translated automatically.

Mutation of the WAS gene mapped to gene locus Xp11.23-p11.22 associated with consecutive WAS protein (WASp) disruption.

ManifestationThis section has been translated automatically.

Male newborns in the first months of life.

Clinical featuresThis section has been translated automatically.

In the neonatal period petechiae, melena and diarrhea. At the age of a few months, eczematous skin changes and recurrent purulent infections (abscesses, pneumonia, otitis media) and also infections with herpes viruses (herpes simplex, varicella zoster virus). Skin lesions corresponding to atopic eczema, mainly localized on the head and extremities. Skin reactions of the late type and chemotaxis of neutrophil granulocytes are reduced.

In later life, there is an increased incidence of malignant diseases, especially lymphoreticular tumors.

LaboratoryThis section has been translated automatically.

Severe thrombocytopenia and structural and functional abnormalities of the platelets. Often eosinophilia. Serum immunoglobulins normal or elevated, IgA and IgE frequently elevated, IgM decreased. No detection of isohaemagglutinins; missing or reduced antibody formation against polysaccharide antigens. Occurrence of paraproteins and autoimmune haemolytic anaemia possible.

TherapyThis section has been translated automatically.

Collaboration with pediatricians and internists. Determine bleeding time. Causal therapy not possible, splenectomy. Chemotherapeutic agents only for symptomatic treatment. Prenatal and carrier diagnostics are required.

Therapy of choice: bone marrow transplantation from HLA-identical donor. Haploidentical bone marrow transplantation is also possible (with worse results).

Experimental: A potentially curative treatment is gene therapy of hematopoietic stem/progenitor cells (HSPC) mediated by lentiviral vectors. It represents an alternative to allogeneic HSPC transplantation (Ferrua F et al. 2019).

Progression/forecastThis section has been translated automatically.

Awkward. Average survival rate about 6 years, most frequent cause of death infection (about 60%), followed by bleeding (about 30%) and malignant tumors (5%). Often exitus lethalis before the age of 10.

LiteratureThis section has been translated automatically.

  1. Aldrich RA, Steinberg AG, Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics 13: 133-139
  2. Dupuis-Girod S et al (2003) Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 111: e622-627

  3. Ferrua F et al. (2019) Lentiviral haemopoietic stem/progenitor cell gene therapy for treatment of Wiskott-Aldrich syndrome: interim results of a non-randomised, open-label, phase 1/2 clinical trial. Lancet Haematol 6:e239-e253.

  4. Greer WL, Higgins E et al (1989) Altered expression of leukocyte sialoglycoprotein in Wiskott-Aldrich syndrome is associated with a specific defect in O-glycolysation. Biochem Cell Biol 67: 503
  5. Huntley CC, Dees SC (1957) Eczema associated with thrombocytopenic purpura and purulent otitis media. Pediatrics 19: 351
  6. Lum LG, Tubergen DG, Corash L, Blaese RM (1980) Splenectomy in the management of the thrombocytopenia of the Wiskott-Aldrich syndrome. N Engl J Med 302: 892
  7. Nonoyama S et al (2001) Wiskott-Aldrich syndrome. Curr Allergy Asthma Rep 1: 430-437.
  8. Ochs HD, Lum LG, Johnson FL et al (1982) Bone marrow transplantation in the Wiskott-Aldrich syndrome. Transplantation 34: 284
  9. Ormerod AD (1985) The Wiskott-Aldrich syndrome. Int J Dermatol 24: 77-81.
  10. Sebire NJ et al (2001) Isolated EBV lymphoproliferative disease in a child with Wiskott-Aldrich syndrome manifesting as cutaneous lymphomatoid granulomatosis and responsive to anti-CD20 immunotherapy. J Clin Pathol 56: 555-557
  11. Snapper SB et al (2003) A family of WASPs. N Engl J Med 348: 350-351.
  12. Wiskott A (1937) Familial congenital Werlhof's disease? Mschr Pediatrics 68: 212-216

Authors

Last updated on: 24.03.2022

Author: Prof. Dr. med. Peter Altmeyer