Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)

Background Omenn syndrome [Mendelian Inheritance (OMIM 603554)] is a genetic disease of the immune system, characterized by the presence of fatal generalized severe erythroderma, lymphoadenopathy, eosinophilia and profound immunodeficiency. Objective We studied clinical and immunologic presentation...

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Veröffentlicht in:	Journal of clinical immunology 2016-01, Vol.36 (1), p.46-55
Hauptverfasser:	Sharapova, Svetlana O., Guryanova, Irina E., Pashchenko, Olga E., Kondratenko, Irina V., Kostyuchenko, Larisa V., Rodina, Yulia A., Varlamova, Tatjana V., Bondarenko, Anastasiia V., Chernyshova, Liudmyla I., Gyseva, Marina N., Belevtsev, Mikhail V., Minakovskaya, Nina V., Aleinikova, Olga V.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine European Continental Ancestry Group Female Hematopoietic Stem Cell Transplantation Homeodomain Proteins - genetics Humans Immunology Immunophenotyping Infant Infant, Newborn Infectious Diseases Internal Medicine Lymphocytes - immunology Male Medical Microbiology Mutation - genetics Original Article Polymorphism, Genetic Prognosis Republic of Belarus Russia Severe Combined Immunodeficiency - diagnosis Severe Combined Immunodeficiency - mortality Severe Combined Immunodeficiency - therapy Survival Analysis Ukraine
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