Identification of Patients with RAG Mutations Previously Diagnosed with Common Variable Immunodeficiency Disorders

Granulomatous inflammation: The overlap of immune deficiency and inflammation

(2014) Carlos D. Rose et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Discovery of single-gene inborn errors of immunity by next generation sequencing

(2014) Mary Ellen Conley et al.   CURRENT OPINION IN IMMUNOLOGY

A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency

(2014) Kathrin Pieper et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

(2014) Benjamin Gathmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies

(2013) Isaac J. Nijman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

(2013) Yu Nee Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

(2013) Andreas Reiff et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14years old male

(2012) Svetlana O. Sharapova et al.   HUMAN IMMUNOLOGY

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

(2012) Roshini S. Abraham et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations

(2011) T. W. Kuijpers et al.   BLOOD

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency

(2011) Kerstin Felgentreff et al.   CLINICAL IMMUNOLOGY

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

(2010) S. S. De Ravin et al.   BLOOD

Diverse phenotypic and genotypic presentation of RAG1 mutations in two cases with SCID

(2009) Neslihan Edeer Karaca et al.   CLINICAL AND EXPERIMENTAL MEDICINE

Late‐Onset Combined Immune Deficiency: A Subset of Common Variable Immunodeficiency with Severe T Cell Defect

(2009) Marion Malphettes et al.   CLINICAL INFECTIOUS DISEASES

An Immunodeficiency Disease withRAGMutations and Granulomas

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