Das X-chromosomales lymphoproliferatives Syndrom 2 ist eine rezessive Erkrankung, die aus Mutationen im XIAP resultiert. Sie ist gekennzeichnet durch ein verminderte Immunabwehr insbesondere gegenüber EBV-Infektionen.
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Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. |
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Worthey EA et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. |
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Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan. |
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Latour S et al. (2015) XIAP deficiency syndrome in humans. |
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Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency. |
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Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation. |
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Zhao M et al. (2010) A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. |
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Pachlopnik Schmid J et al. (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). |
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Wikipedia Artikel Wikipedia DE (X-chromosomales_lymphoproliferatives_Syndrom) |