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

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

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

(2012) Y. T. Bryceson et al.   BLOOD

Clinical and Genetic Characteristics of XIAP Deficiency in Japan

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

The Ubiquitin Ligase XIAP Recruits LUBAC for NOD2 Signaling in Inflammation and Innate Immunity

(2012) Rune Busk Damgaard et al.   MOLECULAR CELL

RNAi screening identifies mediators of NOD2 signaling: Implications for spatial specificity of MDP recognition

(2012) S. Lipinski et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Modulation of immune signalling by inhibitors of apoptosis

(2012) Shawn T. Beug et al.   TRENDS IN IMMUNOLOGY

XIAP Regulates Cytosol-Specific Innate Immunity to Listeria Infection

(2011) Laura D. Bauler et al.   PLoS Pathogens

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

The Genetics of Crohn's Disease

(2009) Johan Van Limbergen et al.   Annual Review of Genomics and Human Genetics

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations

(2009) Rebecca A. Marsh et al.   CLINICAL IMMUNOLOGY

XIAP mediates NOD signaling via interaction with RIP2

(2009) A. Krieg et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA