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Missouri Medicine Nov 1973
Review
Topics: Agglutinins; Antibody Formation; Blood Transfusion; Bone Marrow Cells; Bone Marrow Transplantation; Diagnosis, Differential; Eczema; Humans; Immunity, Cellular; Immunity, Maternally-Acquired; Immunoglobulins; Infections; Isoantibodies; Splenectomy; Transplantation, Homologous; Wiskott-Aldrich Syndrome
PubMed: 4591682
DOI: No ID Found -
Seminars in Arthritis and Rheumatism Feb 1998To describe and review the autoimmune features and typical manifestations of Wiskott-Aldrich syndrome (WAS). (Review)
Review
OBJECTIVE
To describe and review the autoimmune features and typical manifestations of Wiskott-Aldrich syndrome (WAS).
DESIGN
Case series and review of the literature.
SETTING
Tertiary care medical center and pediatric referral center.
PATIENTS
The presentation, diagnosis, and management of two cases are reported. In addition to the typical features of WAS, the first patient had hemolytic anemia, arthritis, leukocytoclastic vasculitis, and colitis. The second patient had colitis and arthralgias. Detailed review of features and therapeutic options in WAS as exemplified by these two patients are presented. Both patients had bone marrow transplantation, the only definitive treatment for WAS.
CONCLUSIONS
WAS has variable clinical and autoimmune manifestations. Diagnosis must be suspected in a boy with small, decreased number of platelets and autoimmune problems or infections. Bone marrow transplantation is the only successful mode of treatment for all aspects of WAS.
Topics: Autoimmune Diseases; Autoimmunity; Bone Marrow Transplantation; Humans; Infant; Male; Wiskott-Aldrich Syndrome
PubMed: 9514127
DOI: 10.1016/s0049-0172(98)80002-4 -
Journal of Pediatric Hematology/oncology Mar 2016
Topics: Blood Platelets; Humans; Male; Mutation; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 26583625
DOI: 10.1097/MPH.0000000000000479 -
Blood Feb 2013In a retrospective analysis of the French Registry of patients with Wiskott-Aldrich Syndrome (WAS), Mahlaoui et al have identified severe refractory thrombocytopenia...
In a retrospective analysis of the French Registry of patients with Wiskott-Aldrich Syndrome (WAS), Mahlaoui et al have identified severe refractory thrombocytopenia (SRT) early in life as a major risk factor for poor outcome.
Topics: Humans; Wiskott-Aldrich Syndrome
PubMed: 23449611
DOI: 10.1182/blood-2013-01-475913 -
Cellular and Molecular Life Sciences :... Oct 1998Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder associated with lymphocytes and platelet abnormalities. The gene that encodes the Wiskott-Aldrich... (Review)
Review
Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency disorder associated with lymphocytes and platelet abnormalities. The gene that encodes the Wiskott-Aldrich protein (WASP) was recently isolated, and shown to be defective in WAS patients. WASP contains multiple domains that interact with various signalling proteins, including the guanine triphosphatase (GTPase) Cdc42Hs and SH3 domain-containing proteins. Biochemical and genetic evidence strongly suggests that WASP is an important protein in the regulation of cell morphology. Recent progress in the identification of molecular partners for WASP suggests a molecular mechanism for the cellular abnormalities of WAS.
Topics: Humans; Lymphocyte Activation; Proteins; Signal Transduction; T-Lymphocytes; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 9817992
DOI: 10.1007/s000180050242 -
Laryngo- Rhino- Otologie Apr 2007The Wiskott-Aldrich-syndrome belongs to the phakomatoses. The hereditary transmission happens x-chromosomal recessive in the domain of Xp 11.3-Xp 11.22. Clinical... (Comparative Study)
Comparative Study
INTRODUCTION
The Wiskott-Aldrich-syndrome belongs to the phakomatoses. The hereditary transmission happens x-chromosomal recessive in the domain of Xp 11.3-Xp 11.22. Clinical evidence for that is given by thrombocytopenia, an eczema and a weakness of the immune system with a subsequent increased risk of frequent infections and a predisposition for a malignancies. A further characteristic of that disease is recurrent otitis media as described by Aldrich in 1954.
PATIENT
The case--as described above--is about a 28-year-old male patient developing an acute deafness on the left ear while he has been suffering from a surditas on the right ear for 5 years. 8 years ago a splenectomy was made, because of persistent thrombocytopenia. An additional clinical characteristic was a hemiballism, arising after a thalamusbleeding 5 years ago, a both-sided vestibular failure concerning both that has been existing for 2 years, as well as a maculopathia with a highly reduced visus on both sides.
CONCLUSIONS
The deafness arising in patients suffering from the Wiskott-Aldrich-syndrome represents a so far not described symptom of that illness.
Topics: Acute Disease; Adult; Audiometry; Deafness; Hearing Loss, Unilateral; Humans; Magnetic Resonance Imaging; Male; Neurocutaneous Syndromes; Time Factors; Wiskott-Aldrich Syndrome
PubMed: 17252322
DOI: 10.1055/s-2006-944751 -
Pediatric Allergy and Immunology :... May 1993Wiskott Aldrich syndrome, a combined cellular and humoral X-linked immunodeficiency, is generally considered to be rare. The aim of this study was to ascertain the true...
Wiskott Aldrich syndrome, a combined cellular and humoral X-linked immunodeficiency, is generally considered to be rare. The aim of this study was to ascertain the true prevalence in the paediatric population in Western Australia, describe the clinical features, and summarise the current literature on this unusual condition. All cases of Wiskott Aldrich syndrome presenting to Princess Margaret Hospital in Perth during the period from January 1960 to January 1990 were identified by a retrospective review of case records and by interviewing hospital immunology, haematology and general clinical staff. Nine cases of Wiskott Aldrich syndrome are described, demonstrating that the prevalence of Wiskott Aldrich syndrome in Western Australia is nine times that expected from previous reports. Death occurred in a number of patients before the correct diagnosis was recognised. The clinical features in this group are quite variable. Low isohaemagglutinins, elevated IgE, blunted DTH skin multitest, and very low CD8 numbers are however consistent features. Wiskott Aldrich syndrome may be more prevalent than previously recognised, and should be considered in males with thrombocytopenia and infection.
Topics: Adolescent; Antigens, CD; Australia; Child; Child, Preschool; Humans; Incidence; Infant; Infant, Newborn; Male; Prevalence; Thrombocytopenia; Wiskott-Aldrich Syndrome
PubMed: 8353648
DOI: 10.1111/j.1399-3038.1993.tb00069.x -
Seminars in Dermatology Sep 1993Skin diseases manifesting classic sex-linked recessive patterns of inheritance provide straightforward problems in the mapping of disease loci. In contrast to autosomal...
Skin diseases manifesting classic sex-linked recessive patterns of inheritance provide straightforward problems in the mapping of disease loci. In contrast to autosomal disorders, in which the abnormal gene might be found on any chromosome, sex-linked diseases are found only on the human X chromosome. Thus, with a reasonable number of polymorphic DNA probes and families with living affected and unaffected males, disease loci can be easily mapped to the relevant subregions of the X chromosome. The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by eczema, immunodeficiency, and thrombocytopenia. Boys with WAS suffer from skin diseases, bleeding problems, recurrent infections, and lymphoid malignancies. In contrast, females who carry the WAS gene are entirely normal, as the abnormal X chromosome is selectively inactivated in cells of hematopoietic origin. Using restriction fragment length polymorphisms (RFLPs) and appropriate families, the WAS locus has been mapped to the proximal portion of the short arm of the X chromosome (Xp11). Prenatal diagnosis is now possible using specific RFLP markers. Moreover, combining RFLP studies with methylation analysis has allowed identification of all female carriers. Although the abnormal gene and protein that are responsible for WAS are currently unknown, studies using yeast artificial chromosomes containing portions of human Xp11 should ultimately allow for the cloning and characterization of the WAS gene. As this gene is expressed primarily in cells of bone marrow origin, WAS is an excellent candidate disease for gene therapy.
Topics: Chromosome Mapping; Chromosomes, Artificial, Yeast; Female; Genetic Linkage; Heterozygote; Humans; Male; Pedigree; Polymorphism, Restriction Fragment Length; Wiskott-Aldrich Syndrome; X Chromosome
PubMed: 8105860
DOI: No ID Found -
BMJ Case Reports Jun 2021
Topics: Eczema; Humans; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 34155025
DOI: 10.1136/bcr-2021-242642 -
Current Opinion in Allergy and Clinical... Dec 2001The Wiskott-Aldrich syndrome is an inherited X-linked disorder characterized by immune deficiency, eczema, and thrombocytopenia with small platelets. The mutated... (Review)
Review
The Wiskott-Aldrich syndrome is an inherited X-linked disorder characterized by immune deficiency, eczema, and thrombocytopenia with small platelets. The mutated protein, Wiskott-Aldrich syndrome protein, is an activator of actin cytoskeletal reorganization in hematopoietic cells. Members of the Wiskott-Aldrich syndrome protein family are being shown to be key integrators of cell signalling and cytoskeletal organization in many eukaryotic cell types. This review focuses on recent discoveries that reveal in increasing detail how Wiskott-Aldrich syndrome protein and its related proteins operate.
Topics: Cytoskeleton; Humans; Lymphocyte Activation; Proteins; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 11964736
DOI: 10.1097/00130832-200112000-00006