DCLRE1C(ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency

Donor CD4 T Cell Diversity Determines Virus Reactivation in Patients After HLA-Matched Allogeneic Stem Cell Transplantation

(2015) J. Ritter et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency

(2015) Claudia Wehr et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

(2015) Kerstin Felgentreff et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity

(2015) Pavel Lobachevsky et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

A hypomorphic recombination-activating gene 1 ( RAG1 ) mutation resulting in a phenotype resembling common variable immunodeficiency

(2014) Hassan Abolhassani et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IgH Chain Class Switch Recombination: Mechanism and Regulation

(2014) Janet Stavnezer et al.   JOURNAL OF IMMUNOLOGY

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

The many faces of Artemis-deficient combined immunodeficiency — Two patients with DCLRE1C mutations and a systematic literature review of genotype–phenotype correlation

(2013) Pamela P. Lee et al.   CLINICAL IMMUNOLOGY

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested

(2013) Catharina Schuetz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901

(2013) Christopher C. Dvorak et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

(2013) İnci Yaman Bajin et al.   MOLECULAR IMMUNOLOGY

MiTCR: software for T-cell receptor sequencing data analysis

(2013) Dmitriy A Bolotin et al.   NATURE METHODS

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Educational paper

(2011) Mirjam van der Burg et al.   EUROPEAN JOURNAL OF PEDIATRICS

Artemis splice defects cause atypical SCID and can be restored in vitro by an antisense oligonucleotide

(2011) H IJspeert et al.   GENES AND IMMUNITY

More than just SCID—The phenotypic range of combined immunodeficiencies associated with mutations in the recombinase activating genes (RAG) 1 and 2

(2010) Tim Niehues et al.   CLINICAL IMMUNOLOGY

An Artemis polymorphic variant reduces Artemis activity and confers cellular radiosensitivity

(2010) Lisa Woodbine et al.   DNA REPAIR

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

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Reduced immunoglobulin class switch recombination in the absence of Artemis

(2009) P. Rivera-Munoz et al.   BLOOD

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

A HomozygousCARD9Mutation in a Family with Susceptibility to Fungal Infections

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination

(2008) Likun Du et al.   JOURNAL OF EXPERIMENTAL MEDICINE

An Immunodeficiency Disease withRAGMutations and Granulomas

(2008) Catharina Schuetz et al.   NEW ENGLAND JOURNAL OF MEDICINE

Non-homologous end joining in class switch recombination: the beginning of the end

(2008) A. Kotnis et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES