Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity.

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency. J Allergy Clin Immunol (2013) 1.48

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood (2014) 0.96

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest (2015) 0.90

RAG1 deficiency may present clinically as selective IgA deficiency. J Clin Immunol (2015) 0.83

Early-onset autoimmune disease as a manifestation of primary immunodeficiency. Front Immunol (2015) 0.80

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review. J Clin Immunol (2014) 0.79

Advances in basic and clinical immunology in 2013. J Allergy Clin Immunol (2014) 0.78

Leaky RAG Deficiency in Adult Patients with Impaired Antibody Production against Bacterial Polysaccharide Antigens. PLoS One (2015) 0.78

Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations. J Am Acad Dermatol (2015) 0.77

Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes. Oncotarget (2016) 0.77

Characterization of T and B cell repertoire diversity in patients with RAG deficiency. Sci Immunol (2016) 0.76

Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection. J Clin Immunol (2015) 0.75

Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies. J Allergy Clin Immunol Pract (2016) 0.75

Compound heterozygous mutation of Rag1 leading to Omenn syndrome. PLoS One (2015) 0.75

Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency. J Clin Immunol (2016) 0.75

The changing face of polyarteritis nodosa and necrotizing vasculitis. Nat Rev Rheumatol (2017) 0.75

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56(bright) NKG2A(+++) Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Front Immunol (2017) 0.75

Partial V(D)J recombination activity leads to Omenn syndrome. Cell (1998) 3.18

RAG mutations in human B cell-negative SCID. Science (1996) 3.03

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood (2001) 2.50

A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest (2005) 1.77

An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med (2008) 1.71

A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest (2005) 1.54

Idiopathic CD4+ T lymphopenia without autoimmunity or granulomatous disease in the slipstream of RAG mutations. Blood (2011) 1.53

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med (2010) 1.35

Lack of nonfunctional B-cell receptor rearrangements in a patient with normal B cell numbers despite partial RAG1 deficiency and atypical SCID/Omenn syndrome. J Clin Immunol (2008) 0.86

A novel mutation in the POLE2 gene causing combined immunodeficiency. J Allergy Clin Immunol (2015) 0.85

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J Allergy Clin Immunol (2014) 0.75

Abnormalities of T cell receptor repertoire in CD4(+) regulatory and conventional T cells in patients with RAG mutations: implications for autoimmunity. J Allergy Clin Immunol (2017) 0.75