نتایج جستجو برای: wiskott

تعداد نتایج: 1772  

Journal: :The Journal of clinical investigation 2016
Yun Liang Johann E Gudjonsson

Dysregulation of the type 2 immune system presents with various manifestations, including allergic inflammation, and has emerged as an alarming public health issue. The pathological mechanisms that underlie T helper type 2 cell-driven (Th2-driven) allergic diseases remain unclear. In particular, it is not completely understood how type 2 immunity is restricted in inflammatory responses. In this...

2006
D. I. K A. HOLZEL

Evans, D. I. K., and Holzel, A. (1970). Archives of Disease in Childhood, 45, 527. Immune deficiency state in a girl with eczema and low serum IgM. Possible female variant of Wiskott-Aldrich syndrome. This report concerns an immune deficiency disorder in a girl with eczema. She has had recurrent infections including three severe attacks of herpes simplex and five attacks of pneumococcal meningi...

Journal: :The Malaysian journal of pathology 2015
Mohd Farid Baharin Sabeera Begum Kader Ibrahim Song Hong Yap Aina Mariana Abdul Manaf Adiratna Mat Ripen Jasbir Singh Dhaliwal

The Wiskott-Aldrich Syndrome (WAS) is an X-linked immunodeficiency condition characterized by microthrombocytopenia, eczema and recurrent infections. It is caused by mutations in the Wiskott-Aldrich Syndrome protein (WASP) gene. We investigated two Malay boys who presented with congenital thrombocytopenia, eczema and recurrent infections. Here we report two cases of WASP mutation in Malaysia fr...

Journal: :Blood 2004
Siobhan Burns Giles O Cory William Vainchenker Adrian J Thrasher

The Wiskott-Aldrich syndrome protein (WASp) is a key regulator of actin polymerization in hematopoietic cells. The dynamic nature of cytoskeletal changes during a variety of cellular processes demands complex mechanisms for coordinated integration of input signals, precise localization within the cell, and regulated activation of the Arp2/3 complex. Mutations in the Wiskott-Aldrich syndrome gen...

Journal: :Journal of clinical pathology 1999
W G McCluggage D J Armstrong R J Maxwell P K Ellis D R McCluskey

A 24 year old male who suffered from the Wiskott-Aldrich syndrome developed intra-abdominal bleeding on two occasions. Radiological investigations showed aneurysmal dilatation of branches of the hepatic and superior mesenteric arteries. The second abdominal bleed necessitated laparotomy and the bleeding was localised to the kidneys. Right nephrectomy was performed and histological examination s...

Journal: :Archives of disease in childhood 1970
D I Evans A Holzel

Evans, D. I. K., and Holzel, A. (1970). Archives of Disease in Childhood, 45, 527. Immune deficiency state in a girl with eczema and low serum IgM. Possible female variant of Wiskott-Aldrich syndrome. This report concerns an immune deficiency disorder in a girl with eczema. She has had recurrent infections including three severe attacks of herpes simplex and five attacks of pneumococcal meningi...

Journal: :Indian pediatrics 2014
Dejan Skoric Aleksandar Dimitrijevic Goran Cuturilo Petar Ivanovski

BACKGROUND Wiskott-Aldrich syndrome is a rare X-linked immunodeficiency disorder with a variable phenotype. CASE CHARACTERISTICS 3.5-year-old boy diagnosed with Wiskott-Aldrich syndrome. OBSERVATION Unusual and persistent thrombocytopenia with increased platelet volume (>10fL). He did not exhibit characteristic clinical and laboratory finding for the syndrome. OUTCOME Maternally inherited...

Journal: :Blood 2001
A H Filipovich J V Stone S C Tomany M Ireland C Kollman C J Pelz J T Casper M J Cowan J R Edwards A Fasth R P Gale A Junker N R Kamani B J Loechelt D W Pietryga O Ringdén M Vowels J Hegland A V Williams J P Klein K A Sobocinski P A Rowlings M M Horowitz

Human leukocyte antigen (HLA)-identical sibling bone marrow transplantation is an effective treatment for Wiskott-Aldrich syndrome. However, most children with this disease lack such donors and many patients receive transplants from alternative donors. This study compared outcomes of HLA-identical sibling, other related donor, and unrelated donor transplantation for Wiskott-Aldrich syndrome. Th...

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