Dual T cell– and B cell–intrinsic deficiency in humans with biallelicRLTPRmutations

Dedicator of cytokinesis 8–deficient CD4 + T cells are biased to a T H 2 effector fate at the expense of T H 1 and T H 17 cells

(2017) Stuart G. Tangye et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes T H 17 cell differentiation

(2016) Sevgi Keles et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Recent Advances in DOCK8 Immunodeficiency Syndrome

(2016) Qian Zhang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+T cells into distinct effector subsets

(2016) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells

(2016) Romain Roncagalli et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

(2016) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TCR and CD28 activate the transcription factor NF-κB in T-cells via distinct adaptor signaling complexes

(2015) Youg Raj Thaker et al.   IMMUNOLOGY LETTERS

Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Genetic errors of the human caspase recruitment domain–B-cell lymphoma 10–mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity

(2015) Rebeca Pérez de Diego et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

(2015) Cindy S. Ma et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Spectrum of Phenotypes Associated with Mutations in LRBA

(2015) Omar K. Alkhairy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation

(2015) Divya Punwani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

(2015) Susanne E. Aydin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

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

Genomics is rapidly advancing precision medicine for immunological disorders

(2015) Yu Zhang et al.   NATURE IMMUNOLOGY

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

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

(2014) Stuart G Tangye   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity

(2014) Juan Manuel Torres et al.   JOURNAL OF CLINICAL INVESTIGATION

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency

(2013) Johann Greil et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects

(2013) Polina Stepensky et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency

(2013) Haifa H. Jabara et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined immunodeficiency associated with homozygous MALT1 mutations

(2013) Margaret L. McKinnon et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An obligate cell-intrinsic function for CD28 in Tregs

(2013) Ruan Zhang et al.   JOURNAL OF CLINICAL INVESTIGATION

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

(2013) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Differential expression and function of human IL-12Rβ2 polymorphic variants

(2013) Roelof A. de Paus et al.   MOLECULAR IMMUNOLOGY

The lymphoid lineage–specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells

(2013) Yinming Liang et al.   NATURE IMMUNOLOGY

CARMIL leading edge localization depends on a non-canonical PH domain and dimerization

(2013) Adam Zwolak et al.   Nature Communications

Functional STAT3 deficiency compromises the generation of human T follicular helper cells

(2012) C. S. Ma et al.   BLOOD

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

(2012) Anne Puel et al.   Current Opinion in Allergy and Clinical Immunology

Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27

(2012) E. Salzer et al.   HAEMATOLOGICA

Decreased T-cell receptor signaling through CARD11 differentially compromises forkhead box protein 3–positive regulatory versus TH2 effector cells to cause allergy

(2011) John A. Altin et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia

(2011) Joris M. van Montfrans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Estimation of the Neutrality Index

(2010) N. Stoletzki et al.   MOLECULAR BIOLOGY AND EVOLUTION

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Mechanisms Underlying Lineage Commitment and Plasticity of Helper CD4+ T Cells

(2010) J. J. O'Shea et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Distinct Roles for CARMIL Isoforms in Cell Migration

(2009) Yun Liang et al.   MOLECULAR BIOLOGY OF THE CELL

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Runs of Homozygosity in European Populations

(2008) Ruth McQuillan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Primary immune deficiencies with aberrant IgE production

(2008) Esra Ozcan et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

(2008) Joshua D. Milner et al.   NATURE