Das Wiskott-Aldrich Syndrom

Belohradsky, Bernd H.; Griscelli, C; Fudenberg, H. Hugh; Marget, W

doi:10.1007/978-3-642-67049-7_3

Cited by 5 publications

(5 citation statements)

References 165 publications

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“…Patients with WAS exhibit variable levels of serum IgM, normal to high levels of serum IgA, and high levels of serum IgD, IgG, and IgE. 103,[181][182][183][184][185] The elevated levels of serum IgE, usually associated with allergic diseases 186 such as the eczema observed in WAS, could be due to the imbalance of Th1/Th2 cytokine production reported in these patients. 85,187 Upon immunization, WAS patients produce a normal Ab response to protein antigens but exibit a selective defect of their Ab response to polysaccharide antigens.…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Wiskott‐Aldrich syndrome: a comprehensive review

Massaad

Ramesh

Geha

2013

Annals of the New York Academy of Sciences

306

264

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Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by microthrombocytopenia, eczema, recurrent infections, and an increased incidence of autoimmunity and malignancies. The disease is caused by mutations in the WAS gene expressed exclusively in hematopoietic cells. WAS protein (WASp) is a multidomain protein that exists in complex with several partners that play important roles in its function. WASp belongs to a family of proteins that relay signals from the surface of the cell to the actin cytoskeleton. Mutations in the WAS gene have various effects on the level of WASp, which, in turn, correlates with the severity of the disease. In addition to WAS, mutations in the WAS gene can result in the mild variant X-linked thrombocytopenia, or in X-linked neutropenia, characterized by neutropenia with myelodysplasia. The absence of functional WASp leads to a severe clinical phenotype that can result in death if not diagnosed and treated early in life. The treatment of choice with the best outcome is hematopoietic stem cell transplantation, preferably from a matched related donor.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Wiskott‐Aldrich syndrome: a comprehensive review

Massaad

Ramesh

Geha

2013

Annals of the New York Academy of Sciences

306

264

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“…Patients with WAS have an increased incidence of autoimmune diseases compared to normal persons [1,13]. Although auto-antibodies to adrenocortical cells could not be demonstrated in the present patient, it is possible that the impaired T-cell function in combination with an EBV-infection resulted in an autoimmune destruction of the adrenal cortex.…”

Section: Discussionmentioning

confidence: 97%

“…The patients are prone to serious infections with encapsulated bacteria and virus. Furthermore lymphoreticular malignancies and myelogenous leukaemia in older patients as well as autoimmune diseases occur with increased frequency [1,10].…”

Section: Introductionmentioning

confidence: 99%

Adrenocortical insufficiency associated with Epstein-Barr virus infection in a patient with the Wiskott-Aldrich syndrome

Hertel¹,

Jacobsen²,

Pedersen³

et al. 1987

Eur J Pediatr

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A 10-year-old boy with the Wiskott-Aldrich syndrome developed adrenocortical insufficiency including typical clinical findings, low s-Na, high s-K, high p-ACTH (640 ng/l), low p-aldosterone (33-39 pmol/l), high p-renin (2300-4200 mIU/l) as well as an abnormal response to an ACTH-stimulation test. The adrenocortical insufficiency developed concomitantly with the occurrence of infectious mononucleosis diagnosed clinically and serologically. Adrenalitis caused by Epstein-Barr virus is suggested as the causative factor.

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“…IgE in serum was elevated in 23 of 31 patients with Wiskott-Aldrich syndrome. However, only two of them had allergic asthma (107).…”

Section: Wiskott-aldrich Syndromementioning

confidence: 96%