X-linked lymphoproliferative syndrome 2

Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Worthey EA et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan.

Latour S et al. (2015) XIAP deficiency syndrome in humans.

Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

Zhao M et al. (2010) A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

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).

Yang X et al. (2015) A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

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