Associated Papers
Concurrent Immune Thrombocytopenia and Autoimmune Neutropenia in a 4-Year-Old Male Patient With XIAP Deficiency: A Case Report.
Yoshikawa K et al.
Pediatric Blood & Cancer, 2025
An efficient diagnosis: A patient with X-linked inhibitor of apoptosis protein (XIAP) deficiency in the setting of infantile hemophagocytic lymphohistiocytosis was diagnosed using high serum interleukin-18 combined with common laboratory parameters.
Higuchi T et al.
Pediatric Blood & Cancer, 2022
Molecular modeling in the age of clinical genomics, the enterprise of the next generation.
Prokop JW et al.
Journal of Molecular Modeling, 2017
Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.
Aguilar C et al.
The Journal of Allergy and Clinical Immunology, 2014
Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling.
Damgaard RB et al.
Embo Molecular Medicine, 2013
Human iNKT and MAIT cells exhibit a PLZF-dependent proapoptotic propensity that is counterbalanced by XIAP.
Gérart S et al.
Blood, 2013
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Pachlopnik Schmid J et al.
Blood, 2011
Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry.
Zhao M et al.
Cytometry. Part B, Clinical Cytometry, 2011
HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
Aguilar-Martinez P et al.
Haematologica, 2010
A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.
Zhao M et al.
Haematologica, 2010
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Rigaud S et al.
Nature, 2006
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