Wiskott-Aldrich SyndromeDefinitive Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets and at least one of the following: Mutation in WASP Absent WASP mRNA on northern blot analysis of lymphocytes Absent WASP protein in lympho...
X-Linked AgammaglobulinemiaDefinitive Male patient with less than 2% CD19+ B cells and at least one of the following: Mutation in Btk Absent Btk mRNA on northern blot analysis of neutrophils or monocytes Absent Btk protein in monocytes or platelets Maternal cousins, uncle...
X-Linked Hyper IgM (XHIM)Definitive Male patient with serum IgG concentration at least 2 SD below normal for age and one of the following: Mutation in the CD40L gene Maternal cousins, uncles, or nephews with confirmed diagnosis of XHIM Probable Male patient with seru...
X-Linked Lymphoproliferative SyndromeDefinitive Male patient with lymphoma/ Hodgkins disease, fatal EBV infection, immunodeficiency, aplastic anemia or lymphohistiocytic disorder who has a mutation in SH2D1A/SAP/DSHP. Probable Male patient experiencing death, lymphoma/Hodgkins disease...
X-linked Severe Combined Immunodeficiency (XSCID)Definitive Male patient with either a) engraftment of transplacentally acquired maternal T cells; or b) less than 10% CD3+ T cells, less than 2% CD16/56+ NK cells and more than 75% CD19+ B cells, who has one of the following: 1) Mutation in the cyt...
X-linked thrombocytopenia (XLT)
In July 2007, the XLT working group has initiated a survey on patients with X-linked Thrombocytopenia, a mild subtype of Wiskott-Aldrich syndrome. This survey can be filled in by ESID Centres in the ESID Online Database inside the new XLT subregistry.
Centres which are not participating in the ESID Database yet can either join the database by writing an email to or they can contact the XLT working group by filling in the contact form below.
APPLICATION OF HIGH-THROUGHPUT SEQUENCING IN GENOME WIDE ANALYSIS
Young Researcher Corner - December 2011, by Immacolata Brigida
Thymic emigrants: TRECs and CD31+CD4+ T cells
YOUNG RESEARCHERS' CORNER Spring 2011, by Sara Ciullini Mannurita
DETECTING PROTEIN PHOSPORYLATION AND CELL SIGNALING BY FLOW CITOMETRY
Young Researcher's Corner - Autumn 2011, by Sara Ciullini Mannurita
ELISPOT, a new tool for research and diagnostic
YOUNG RESEARCHER'S CORNER - SUMMER 2011, by Brigida Immacolata
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