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X-linked lymphoproliferative syndrome 2

X-linked lymphoproliferative syndrome 2 is a recessive disorder caused by mutations of the XIAP gene. It is characterized by immunodeficiency in particular against EBV infections.

Systematic

Lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome type 2
Lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
XIAP

References:

1.

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

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2.

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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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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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9.

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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10.

Wikipedia article

Wikipedia EN (X-linked_lymphoproliferative_disease) external link
Update: Aug. 14, 2020
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