Comprehensive molecular diagnosis of Epstein–Barr virus-associated lymphoproliferative diseases using next-generation sequencing

Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient

(2017) Christine Greil et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human immunity against EBV—lessons from the clinic

(2017) Stuart G. Tangye et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A human immunodeficiency syndrome caused by mutations in CARMIL2

(2017) T. Schober et al.   Nature Communications

Hematopoietic Stem Cell Transplantation for XIAP Deficiency in Japan

(2016) Shintaro Ono et al.   JOURNAL OF CLINICAL IMMUNOLOGY

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation

(2016) Heidrun Boztug et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited CD70 deficiency in humans reveals a critical role for the CD70–CD27 pathway in immunity to Epstein-Barr virus infection

(2016) Kazushi Izawa et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Combined immunodeficiency and Epstein-Barr virus–induced B cell malignancy in humans with inherited CD70 deficiency

(2016) Hassan Abolhassani et al.   JOURNAL OF EXPERIMENTAL MEDICINE

RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics

(2016) Elisabeth Salzer et al.   NATURE IMMUNOLOGY

Primary immunodeficiencies and the control of Epstein-Barr virus infection

(2015) Umaimainthan Palendira et al.   Annals of the New York Academy of Sciences

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases

(2015) Marta Rusmini et al.   ANNALS OF THE RHEUMATIC DISEASES

The Immunology of Epstein-Barr Virus–Induced Disease

(2015) Graham S. Taylor et al.   Annual Review of Immunology

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

XLP: Clinical Features and Molecular Etiology due to Mutations in SH2D1A Encoding SAP

(2014) Stuart G Tangye   JOURNAL OF CLINICAL IMMUNOLOGY

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Primer3—new capabilities and interfaces

(2012) Andreas Untergasser et al.   NUCLEIC ACIDS RESEARCH

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

(2009) Udo zur Stadt et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

(2009) Marjorie Côte et al.   JOURNAL OF CLINICAL INVESTIGATION