Symptomatic Males and Female Carriers in a Large Caucasian Kindred with XIAP Deficiency

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency

(2014) S. Ammann et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

XIAP variants in male Crohn's disease

(2014) Yvonne Zeissig et al.   GUT

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

(2013) C. Speckmann et al.   CLINICAL IMMUNOLOGY

Disease-causing mutations in the XIAPBIR2 domain impair NOD2-dependent immune signalling

(2013) Rune Busk Damgaard et al.   EMBO Molecular Medicine

XIAP deficiency is a mendelian cause of late-onset IBD

(2013) Carsten Speckmann et al.   GUT

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

Allogeneic hematopoietic cell transplantation for XIAP deficiency: an international survey reveals poor outcomes

(2012) R. A. Marsh et al.   BLOOD

Clinical and Genetic Characteristics of XIAP Deficiency in Japan

(2012) Xi Yang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

(2010) R. A. Marsh et al.   BLOOD

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE