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Wiskott-Aldrich Syndrome (wiskott-aldrich + syndrome)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

Identification of five novel WASP mutations in Chinese families with Wiskott-Aldrich syndrome

HUMAN MUTATION, Issue 2 2002
Koon-Wing Chan
Abstract The Wiskott-Aldrich Syndrome (WAS) is an X-linked recessive immunodeficiency caused by mutation in the gene encoding WAS protein (WASP). The disease is characterized by eczema, thrombocytopenia and severe immunodeificency and is associated with extensive clinical heterogeneity. Mutation studies indicated that the mutated genotypes are also highly variable. In this study, we performed PCR-direct sequencing analysis of the WAS gene in six unrelated Chinese families. Five novel mutations identified, included two nonsense mutations (506C,T, 1388,T), a small insertion (685-686insCGCA) and two single-base deletions (384delT, 984delC). All of the mutations are predicted to lead to premature translational termination of WASP. Š 2002 Wiley-Liss, Inc. [source]

EMLAŽ cream-induced irritant contact dermatitis

JOURNAL OF CUTANEOUS PATHOLOGY, Issue 3 2002
Huiting Dong
Background:, The Eutectic Mixture of Local Anesthetics (EMLAŽ cream) is a topical anesthetic used for providing pain relief in patients undergoing superficial surgical procedures. Cutaneous side-effects have been reported rarely. Case Report:, We present a case of irritant contact dermatitis induced by EMLAŽ cream in a 6-year-old boy with Wiskott-Aldrich syndrome. Our patient showed clinically a well circumscribed patch corresponding to the site of application of the topical anesthetic. Histopathology showed confluent necrosis of keratinocytes in the upper epidermis, a mixed inflammatory infiltrate with priminent neutrophils in the upper dermis, and focal signs of interface changes including basal cell vacuolization and subepidermal cleft formation. Conclusions:, Graft-vs.-host-disease (GVHD), necrolytic migratory erythema, dermatitis enteropathica and pellagra should be considered in the histopathologic differential diagnosis of acute contact dermatitis caused by EMLAŽ. [source]

Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis in Wiskott-Aldrich syndrome

ACTA PAEDIATRICA, Issue 7 2003
S Pasic
A patient with Wiskott-Aldrich syndrome who developed Epstein-Barr virus-associated haemophagocytic lymphohistiocytosis (EBV-HLH) is described in this study. At 4 mo of age the patient developed fever associated with bicytopenia and splenomegaly. Analysis of a bone marrow specimen revealed extensive haemophagocytosis, and in situ hybridization for EBV of the bone marrow specimen using an EBV-encoded RNA probe was positive. Diagnosis of EBV-HLH was established and immunotherapy with HLH-94 protocol was started. HLH has been described in patients with other well-defined primary immunodeficiencies such as X-linked lymphoproliferative syndrome, Chediak-Higashi syndrome and Griscelli disease. Also, HLH was reported recently in severe combined immunodeficiency and DiGeorge syndrome. Conclusion: The possibility of an underlying primary immunodeficiency should be considered in paediatric patients who present with HLH during infancy. [source]