Wiskott-Aldrich Syndrome (Syndrome, Wiskott-Aldrich)

A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.

Also Known As:

Networked: 484 relevant articles (18 outcomes, 30 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Thrombocytopenia (Thrombopenia)
2.	Severe Combined Immunodeficiency (Bare Lymphocyte Syndrome)
3.	Chronic Granulomatous Disease
4.	X-Linked Combined Immunodeficiency Diseases (X Linked Severe Combined Immunodeficiency)
5.	Glomerulonephritis

Experts

1.	Notarangelo, Luigi D: 11 articles (11/2015 - 07/2005)
2.	Thrasher, Adrian J: 10 articles (04/2015 - 11/2004)
3.	Geha, Raif S: 8 articles (11/2015 - 12/2003)
4.	Candotti, Fabio: 7 articles (11/2015 - 02/2007)
5.	Ochs, Hans D: 7 articles (08/2011 - 01/2004)
6.	Fischer, Alain: 6 articles (04/2015 - 10/2002)
7.	Aiuti, Alessandro: 6 articles (04/2015 - 03/2006)
8.	Morio, Tomohiro: 6 articles (01/2015 - 01/2004)
9.	Snapper, Scott B: 6 articles (02/2010 - 03/2003)
10.	Pai, Sung-Yun: 5 articles (11/2015 - 05/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Wiskott-Aldrich Syndrome:

1.	Severe combined immunodeficiency due to adenosine deaminase deficiencyIBA 04/01/2014 - "Clinical results from the past 15 years have shown that significant improvement and even cure can be achieved for diseases such as X-linked severe combined immunodeficiency, adenosine deaminase deficiency, chronic granulomatous disease and Wiskott-Aldrich syndrome. " 05/01/2011 - "Retroviral vectors have been developed for hematopoietic stem cell (HSC) gene therapy and have successfully cured X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy, and Wiskott-Aldrich syndrome. " 01/01/2013 - "Retrovirus-based gene therapy was begun in 1990 for the patients of adenosine deaminase deficiency, followed by X-linked severe combined immunodeficiency, Wiskott-Aldrich syndrome and chronic granulomatous disease. " 12/01/2011 - "To date, HSC gene therapy has been successfully employed in the clinic for improving clinical outcomes in small numbers of patients with X-linked severe combined immunodeficiency (SCID-X1), adenosine deaminase deficiency (ADA-SCID), adrenoleukodystrophy (ALD), thalassemia, chronic granulomatous disease (CGD), and Wiskott-Aldrich syndrome (WAS). " 11/01/2009 - "For patients with specific disorders (severe combined immunodeficiency (SCID)-X1, adenosine deaminase deficiency (ADA)-SCID, X-chronic granulomatous disease (CGD) and Wiskott-Aldrich Syndrome (WAS)) who lack a suitable human leukocyte antigen (HLA)-matched donor, gene therapy has offered an important alternative treatment option. "
2.	Transfer Factor (Factor, Transfer)IBA 09/01/1980 - "Nephropathy was detected in five of 32 patients with the Wiskott-Aldrich syndrome who were participating in a study of transfer factor (TF) therapy. " 12/01/1972 - "We conclude that cellular immunity can be induced, that there appears to be clinical benefit in certain patients with Wiskott-Aldrich syndrome by the use of transfer factor, and that this mode of therapy warrents trial in these patients and others with defects of cellular immunity." 01/01/1983 - "The attempt of an interval treatment in a patient affected with Wiscott-Aldrich syndrome with transfer factor between the 6th and 14th month of life had good clinical success initially which coincided with the normalization of in vitro stimulation of the patient's lymphocytes. " 01/01/1983 - "[Discrepancy between the clinical and immunologic picture of in vitro diagnosis during transfer factor therapy in a patient with Wiscott-Aldrich syndrome]." 09/30/1979 - "[Successful treatment of Wiscott-Aldrich syndrome with transfer factor]."
3.	AntibodiesIBA 11/01/2010 - "On the contrary, platelet-associated antibodies normalize the clearance of platelets in a mouse model for Wiskott-Aldrich syndrome. " 11/01/2009 - "To study the role of antiplatelet antibodies in the thrombocytopenia of murine Wiskott-Aldrich syndrome (WAS). " 03/01/1963 - "The triad of thrombocytopenia, eczema, and recurrent infections (Wiskott-Aldrich syndrome) associated with milk antibodies, giant-cell pneumonia, and cytomegalic inclusion disease." 04/01/2014 - "High levels of nonglycosylated IgA were found in patients with Wiskott-Aldrich syndrome, and these abnormal antibodies might contribute to the nephropathy seen in these patients. " 12/01/1986 - "The Wiskott-Aldrich Syndrome (WAS) in humans has a number of similarities to the immunodeficiencies found in CBA/N mice, including X-chromosome-linked inheritance, inability to produce antibodies to various carbohydrate antigens, susceptibility to various bacterial infections, and an imbalance in B lymphocyte subpopulations. "
4.	AntigensIBA 04/21/2015 - "Gene-corrected autologous HSCs were infused in 7 consecutive patients with severe Wiskott-Aldrich syndrome lacking HLA antigen-matched related or unrelated HSC donors (age range, 0.8-15.5 years; mean, 7 years) following myeloablative conditioning. " 11/01/1996 - "Multiple antigens are altered on T and B lymphocytes from peripheral blood and spleen of patients with Wiskott-Aldrich syndrome." 02/01/1984 - "In nine patients with Wiskott-Aldrich syndrome (WAS), the constant lack of anti-EB virus associated nuclear antigen (EBNA) was accompanied by a consistent impairment of allogeneic cytotoxicity. " 07/01/1972 - "Lymphocyte-macrophage interaction in antigen induced in vitro lymphocyte transformation in patients with the Wiskott-Aldrich syndrome and other diseases with anergy." 12/01/1968 - "Dichotomy of antibody response to group A streptococcal antigens in Wiskott-Aldrich syndrome."
5.	Busulfan (Busulfex)FDA Link 03/01/2001 - "A 4.6 kg infant with Wiskott-Aldrich syndrome received an accidental overdose of busulfan during preparation for allogeneic stem cell transplantation. " 03/01/2001 - "Accidental busulfan overdose: enhanced drug clearance with hemodialysis in a child with Wiskott-Aldrich syndrome." 06/01/1993 - "To assess the platelet characteristics and functionalism in the Wiskott-Aldrich syndrome (WAS) after allogeneic BMT using cyclophosphamide and busulphan for conditioning. " 11/01/1982 - "A 21-month-old boy with the Wiskott-Aldrich syndrome conditioned with cyclophosphamide and dimethyl myleran received bone marrow from an HLA-matched sibling. " 04/01/1981 - "The use of busulfan in moderate dosages as a myeloablative agent, coupled with cyclophosphamide, may offer an improved alternative to the use of lethal total body irradiation as a preparative regimen for complete correction of Wiskott-Aldrich syndrome by marrow transplantation."
6.	Cyclophosphamide (Cytoxan)FDA LinkGeneric 06/01/1993 - "To assess the platelet characteristics and functionalism in the Wiskott-Aldrich syndrome (WAS) after allogeneic BMT using cyclophosphamide and busulphan for conditioning. " 11/01/1982 - "A 21-month-old boy with the Wiskott-Aldrich syndrome conditioned with cyclophosphamide and dimethyl myleran received bone marrow from an HLA-matched sibling. " 04/01/1981 - "The use of busulfan in moderate dosages as a myeloablative agent, coupled with cyclophosphamide, may offer an improved alternative to the use of lethal total body irradiation as a preparative regimen for complete correction of Wiskott-Aldrich syndrome by marrow transplantation." 09/11/1993 - "Two males of 3 and 3 1/2 years of age with the Wiskott-Aldrich syndrome who underwent bone marrow transplantation from an HLA compatible brother following conditioning treatment with busulphan and cyclophosphamide are described. " 04/01/1981 - "Reconstitution of normal megakaryocytopoiesis and immunologic functions in Wiskott-Aldrich syndrome by marrow transplantation following myeloablation and immunosuppression with busulfan and cyclophosphamide."
7.	Membrane Glycoproteins (Membrane Glycoprotein)IBA 08/01/1988 - "Analysis of the membrane glycoproteins of platelets in the Wiskott-Aldrich syndrome." 01/01/1992 - "These results suggest that asparagine-linked sugar chains in membrane glycoproteins of hematopoietic cells may not be impaired in Wiskott-Aldrich syndrome." 01/01/1992 - "In both healthy controls and patients with Wiskott-Aldrich syndrome, the main oligosaccharide in asparagine-linked sugar chains of the membrane glycoproteins of erythrocytes was biantennary sugar chain with bisected GlcNAc (Gal2-GlcNAc2-Man3-GlcNAc-GlcNAc-Fuc-GlcNAcOT). " 07/01/1987 - "Expression on blood cells of sialophorin, the surface glycoprotein that is defective in Wiskott-Aldrich syndrome." 11/13/1998 - "The aberrant expression of core 2 O-glycans on T cell surface glycoproteins has been associated with various immunodeficient syndromes such as Wiskott-Aldrich syndrome and AIDS. "
8.	Complementary DNA (cDNA)IBA 03/01/2006 - "Efficacy of gene therapy for Wiskott-Aldrich syndrome using a WAS promoter/cDNA-containing lentiviral vector and nonlethal irradiation." 02/01/2000 - "These findings imply a functional linkage between the WAS protein and the expression of the glycosyltransferase involved in the O-glycosylation, and also suggest a potential gene therapy via transferring a functional WASp cDNA into hematopoietic cells for Wiskott-Aldrich syndrome. " 10/01/1995 - "This molecule has been identified as a cDNA encoding the protein product of WASP, which is mutated in Wiskott-Aldrich syndrome patients. "
9.	Adrenal Cortex Hormones (Corticosteroids)IBA 07/01/1989 - "Monocyte-macrophage dysfunctions have been described in various disorders: defective chemotaxis (corticosteroids, drug induced immunosuppression, AIDS, diabetes), defective phagocytosis (lupus erythematosus, deficiency of a membrane glycoprotein), microbicidal defect (chronic granulomatous disease), decreased cytotoxicity (Wiskott-Aldrich-Syndrome), deficiencies in the clearance of physiologic substrates in lysosomal diseases." 06/01/2011 - "The expression of corticosteroids and regional expression 16 (CR16) and neural Wiscott-Aldrich syndrome protein (N-WASP) was studied in the testes of men with idiopathic azoospermia by (1) immunohistochemistry and Western blot to detect the expression of CR16 and N-WASP protein, (2) reverse transcription with the polymerase chain reaction (RT-PCR) to determine the amounts of CR16 and N-WASP mRNA, and (3) double-staining immunofluorescence and laser scanning confocal microscopy (LSCM) to demonstrate the co-localization of CR16 and N-WASP proteins. "
10.	Interleukin-11 (Interleukin 11)IBA 05/01/2002 - "Treatment of severe thrombocytopenia with IL-11 in children with Wiskott-Aldrich syndrome." 05/01/2002 - "This report examines the safety and efficacy of IL-11 in treating severe thrombocytopenia secondary to Wiskott-Aldrich syndrome in two pediatric patients before allogeneic stem cell transplantation (SCT). "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 07/01/2012 - "Stem cell or bone marrow transplantation has been successful for several diseases while gene therapy shows promise in the Wiskott-Aldrich syndrome." 09/01/2006 - "Wiskott-Aldrich syndrome, an X-linked primary immunodeficiency can be cured by bone marrow transplantation. " 01/01/1973 - "Improved platelet function following bone marrow transplantation in an infant with the Wiskott-Aldrich syndrome." 06/01/2013 - "Gene therapy for the treatment of Wiskott-Aldrich syndrome (WAS) presents an alternative to the current use of allogeneic bone marrow transplantation. " 03/01/2011 - "An 18-year-old fully virilized male patient with a history of Wiskott-Aldrich syndrome had undergone successful bone marrow transplantation in infancy. "
2.	Transplantation (Transplant Recipients) 03/15/2001 - "This study compared outcomes of HLA-identical sibling, other related donor, and unrelated donor transplantation for Wiskott-Aldrich syndrome. " 12/01/2014 - "We report a novel mutation in a boy with Wiskott-Aldrich syndrome (WAS) who was 4 years and 10 months of age and underwent successful umbilical cord blood transplantation (UCBT). " 12/01/2014 - "A novel mutation in Wiskott-Aldrich syndrome and successfully treated with umbilical cord blood transplantation." 11/01/2012 - "HLA-identical sibling donor transplantation remains the treatment of choice for Wiskott-Aldrich Syndrome (WAS). " 08/01/2007 - "Early transplantation of unrelated cord blood in a two-month-old infant with Wiskott-Aldrich syndrome."
3.	Splenectomy 01/01/1981 - "Immunologic studies before and after splenectomy in a patient with the Wiskott-Aldrich syndrome." 01/01/2011 - "Prolonged survival after splenectomy in Wiskott-Aldrich syndrome: a case report." 08/01/1990 - "Wiskott-Aldrich syndrome: fatal consequences of splenectomy in an unrecognised attenuated variant." 04/17/1980 - "Splenectomy in the Wiskott-Aldrich syndrome." 04/17/1980 - "We evaluated the effects of splenectomy on hemostatic improvement and subsequent clinical course in 16 patients with the Wiskott-Aldrich syndrome. "
4.	Stem Cell Transplantation 04/01/2013 - "Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation." 09/01/2007 - "Allogeneic stem cell transplantation is the only curative treatment for Wiskott-Aldrich syndrome. " 11/01/2006 - "A total of 57 patients with Wiskott-Aldrich syndrome (WAS) were studied after undergoing stem cell transplantation (SCT) in Japan between January 1985 and December 2004. " 11/01/2006 - "Outcome in patients with Wiskott-Aldrich syndrome following stem cell transplantation: an analysis of 57 patients in Japan." 09/01/2006 - "Use of two unrelated umbilical cord stem cell units in stem cell transplantation for Wiskott-Aldrich syndrome."
5.	Drug Therapy (Chemotherapy) 11/01/2011 - "Better tissue typing, matching of donors, less toxic chemotherapy, better virus detection and treatment, improved supportive care, and graft-versus-host disease prophylaxis mean up to a 90% cure for severe combined immunodeficiency patients and a 70-80% cure for other PIDs given a matched unrelated donor, and rising to 95% for young patients with specific PIDs, such as Wiskott-Aldrich syndrome. "