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

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

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

Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers

(2014) Claire Aguilar et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

ACTN1 Mutations Cause Congenital Macrothrombocytopenia

(2013) Shinji Kunishima et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency

(2013) Taizo Wada et al.   CYTOKINE

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

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

Combined De-Novo Mutation and Non-Random X-Chromosome Inactivation Causing Wiskott-Aldrich Syndrome in a Female with Thrombocytopenia

(2013) Boonchai Boonyawat et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical and Genetic Characteristics of XIAP Deficiency in Japan

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

Familial and Acquired Hemophagocytic Lymphohistiocytosis

(2011) G.E. Janka   Annual Review of Medicine

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

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency

(2009) Rebecca A. Marsh et al.   CYTOMETRY PART B-CLINICAL CYTOMETRY

X chromosome inactivation in clinical practice

(2009) Karen Helene Ørstavik   HUMAN GENETICS

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

X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation

(2008) Eric M. Lewis et al.   CLINICAL IMMUNOLOGY

Adult Onset X-Linked Chronic Granulomatous Disease in a Woman Patient Caused by a de novo Mutation in Paternal-Origin CYBB Gene and Skewed Inactivation of Normal Maternal X Chromosome

(2008) Takahisa Gono et al.   INTERNAL MEDICINE