A novel genomic inversion in Wiskott-Aldrich–associated autoinflammation
نویسندگان
چکیده
منابع مشابه
Gene hunting in autoinflammation
Steady progress in our understanding of the genetic basis of autoinflammatory diseases has been made over the past 16 years. Since the discovery of the familial Mediterranean fever gene MEFV (also known as marenostrin) in 1997, 18 other genes responsible for monogenic autoinflammatory diseases have been identified to date. The discovery of these genes was made through the utilisation of many ge...
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Autoinflammatory diseases are characterized by more or less spontaneous inflammation without inciting infection or autoimmunity. These can be either acquired or genetically determined. The latter –hereditary– autoinflammatory syndromes have been classified by some as primary immunodeficiencies: defects affecting the control of the innate arm of the immune system. Immunodeficiency syndromes, how...
متن کاملTwo novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investig...
متن کاملdetection of six novel mutations in wasp gene in fifteen iranian wiskott-aldrich patients.
wiskott-aldrich syndrome (was) is a life-threatening x-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the was protein (wasp) gene. the milder form of this disease is x-linked thrombocytopenia (xlt) that presents only as platelet abnormalities. mutation analysis for 15 boys with wiskott-aldr...
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ژورنال
عنوان ژورنال: Journal of Allergy and Clinical Immunology
سال: 2016
ISSN: 0091-6749
DOI: 10.1016/j.jaci.2016.03.007