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Current Opinion in Pediatrics Dec 1995Wiskott-Aldrich syndrome is an immunodeficiency associated with thrombocytopenia, recurrent infections, eczema, and a predisposition to malignancy. Until this past year,... (Review)
Review
Wiskott-Aldrich syndrome is an immunodeficiency associated with thrombocytopenia, recurrent infections, eczema, and a predisposition to malignancy. Until this past year, the genetic defect was unknown, and our understanding of the disease was limited to defining the aberrant immunologic and hematologic functions in these patients. The identification of the genetic defect has already improved our understanding of the pathogenesis of this complex disease and has already resulted in the development of a more widely applicable prenatal diagnostic test. Other important developments this past year include the development of a diagnostic assay that should simplify the identification of Wiskott-Aldrich syndrome patients and a retrospective review that characterizes the natural history of the disease.
Topics: Child; Humans; Wiskott-Aldrich Syndrome
PubMed: 8776019
DOI: 10.1097/00008480-199512000-00010 -
The National Medical Journal of India 2021Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who...
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder, characterized by thrombocytopenia, eczema and recurrent infections. We report a 4-month-old boy who presented with respiratory distress, petechiae, organomegaly and eczema. He was admitted to the paediatric intensive care unit because of severe respiratory distress due to Cytomegalovirus (CMV) infection. As peripheral blood smear showed microthrombocytopenia, Sanger gene sequencing was performed, which confirmed the diagnosis of WAS. This rare combination of possible congenital CMV infection in the background of WAS, misled the initial diagnosis.
Topics: Child; Cytomegalovirus Infections; Humans; Infant; Male; Thrombocytopenia; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 34397000
DOI: 10.4103/0970-258X.323441 -
The Lancet. Haematology May 2019
Topics: Gene Transfer Techniques; Genetic Therapy; Humans; T-Lymphocytes; Wiskott-Aldrich Syndrome
PubMed: 30981782
DOI: 10.1016/S2352-3026(19)30066-3 -
Scandinavian Journal of Immunology Jan 2022Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive...
Wiskott-Aldrich syndrome (WAS) also called the eczema-thrombocytopenia-immunodeficiency syndrome is a primary immunodeficiency disease with X-linked recessive inheritance caused by mutations in the WAS protein (WASp) gene and characterized by thrombocytopenia with reduced platelet volume, eczema, immunodeficiency, and increased risk of malignant tumours. The mutations will lead to separate WAS severity which can be typical severe 'classical' WAS or less severe 'non-classical' WAS. This article will review and analyse clinical and immune characteristics of five unrelated Chinese families harbouring classical and non-classical WAS. The expression of WASp was detected in the peripheral blood monocytes (PBMC) by flow cytometry, and five mutations were found by WAS gene sequencing, one of which had not been reported in the literature, namely frameshift mutation c.1240_1247delCCACTCCC (p. P414Sfs*41).
Topics: China; DNA Mutational Analysis; Eczema; Family; Female; Humans; Infant; Leukocytes, Mononuclear; Male; Mean Platelet Volume; Mutation; Thrombocytopenia; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 34758123
DOI: 10.1111/sji.13115 -
European Journal of Immunology May 2021Analysis of serum cytokine levels in Wiskott-Aldrich syndrome patients pre- and post- treatment reveals IL-18 as a stable and reliable marker of inflammation. Definitive...
Analysis of serum cytokine levels in Wiskott-Aldrich syndrome patients pre- and post- treatment reveals IL-18 as a stable and reliable marker of inflammation. Definitive stem cell treatment with good myeloid correction correlates with resolution of inflammation and reduction of circulating IL-18, highlighting the importance of actin cytoskeletal regulation of myeloid cells in control of inflammation.
Topics: Biomarkers; Cytokines; Disease Susceptibility; Humans; Inflammation Mediators; Interleukin-18; Wiskott-Aldrich Syndrome
PubMed: 33448368
DOI: 10.1002/eji.202049024 -
Archivos Argentinos de Pediatria Jun 2015The Wiskott-Aldrich syndrome is a rare X-linked recessive immunodeficiency, with an estimated incidence of 3.5 to 5.2 cases per million males. It is characterized by...
The Wiskott-Aldrich syndrome is a rare X-linked recessive immunodeficiency, with an estimated incidence of 3.5 to 5.2 cases per million males. It is characterized by immunodeficiency, microthrombocytopenia and eczema. We present a 5-year-old Hispanic male, with a medical history of numerous infectious diseases, compromised health, chronic malnutrition, language delay and failure to thrive. An infrequent mutation in the Wiskott-Aldrich syndrome gene was found.
Topics: Child, Preschool; Humans; Male; Wiskott-Aldrich Syndrome
PubMed: 25996331
DOI: 10.5546/aap.2015.e137 -
Ryoikibetsu Shokogun Shirizu 2000
Review
Topics: Anti-Infective Agents; Diagnosis, Differential; Hematopoietic Stem Cell Transplantation; Humans; Mutation; Prognosis; Proteins; T-Lymphocytes; Thymectomy; Transplantation, Autologous; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 11212663
DOI: No ID Found -
Ryoikibetsu Shokogun Shirizu 1998
Review
Topics: Diagnosis, Differential; Humans; Prognosis; Wiskott-Aldrich Syndrome; X Chromosome
PubMed: 9833484
DOI: No ID Found -
Journal of Medical Case Reports Jul 2022Wiskott-Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections,...
INTRODUCTION
Wiskott-Aldrich syndrome is a rare X-linked primary immunodeficiency that mostly presents with a classic triad of eczema, microthrombocytopenia, recurrent infections, and increased risk of autoimmunity/malignancies.
CASE PRESENTATION
We present an 8-month-old African male, born from nonconsanguineous parents and who presented with a history of eczematous skin rash since day 9 of life, with recurrent sinus infections, otitis media, and skin abscesses. An elder male sibling who had similar symptoms passed away during infancy. Investigations were consistent with microthrombocytopenia and significantly raised immunoglobulin E, while immunoglobulin A and immunoglobulin G were moderately elevated with normal immunoglobulin M. Genetic testing revealed the patient to be hemizygous for a pathogenic Wiskott-Aldrich syndrome gene variant (NM_000377.2:c.403C>T). He was managed conservatively with supportive treatment until he died a year later.
CONCLUSION
Despite Wiskott-Aldrich syndrome being a rare disease, it should be considered as a differential in any male child who presents with microthrombocytopenia and recurrent infections, especially in low-resource settings where genetic testing is not routinely available.
Topics: Africa, Eastern; Aged; Child; Humans; Immunoglobulin G; Infant; Male; Mutation; Reinfection; Wiskott-Aldrich Syndrome; Wiskott-Aldrich Syndrome Protein
PubMed: 35897083
DOI: 10.1186/s13256-022-03517-1 -
Current Opinion in Hematology Jan 2011The Wiskott-Aldrich syndrome (WAS), caused by mutations in the WAS gene, is a complex and diverse disorder with X-linked inheritance. This review focuses on recent... (Review)
Review
PURPOSE OF REVIEW
The Wiskott-Aldrich syndrome (WAS), caused by mutations in the WAS gene, is a complex and diverse disorder with X-linked inheritance. This review focuses on recent developments in the understanding of its basic pathophysiology, diverse clinical phenotypes and optimal patient management including novel therapies.
RECENT FINDINGS
The protein encoded by the WAS gene is a multifunctional signaling element expressed in immune and hematopoietic cells that plays a critical role in cytoskeletal reorganization, immune synapse formation and intracellular signaling. The type of specific mutation, its location within the gene and its effect on protein expression play a major role in determining an individual patient's clinical phenotype. Recent clinical observations and molecular studies have created a sophisticated picture of the disease spectrum. The improved outcome of stem cell transplantation from related and unrelated matched donors and promising early results from the first clinical gene therapy trial have added new therapeutic options for these patients.
SUMMARY
Classic WAS, X-linked thrombocytopenia and X-linked neutropenia are caused by WAS gene mutations, each having a distinct pattern of clinical symptoms and disease severity. New developments in the understanding of these syndromes and novel therapeutic options will have a major impact on the treatment of individuals with WAS mutations.
Topics: Humans; Wiskott-Aldrich Syndrome
PubMed: 21076297
DOI: 10.1097/MOH.0b013e32834114bc