RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches.

Bosticardo, Marita; Pala, Francesca; Notarangelo, Luigi D

Bosticardo, Marita; Pala, Francesca; Notarangelo, Luigi D.

Affiliation

Bosticardo M; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Pala F; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.
Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.

Eur J Immunol ; 51(5): 1028-1038, 2021 05.

Article in En | MEDLINE | ID: mdl-33682138

Subject(s)

DNA-Binding Proteins/genetics; Genetic Predisposition to Disease; Homeodomain Proteins/genetics; Nuclear Proteins/genetics; Severe Combined Immunodeficiency/etiology; Severe Combined Immunodeficiency/therapy; V(D)J Recombination/genetics; Animals; Diagnosis, Differential; Disease Management; Disease Models, Animal; Genetic Association Studies; Genetic Therapy; Genotype; Humans; Mutation; Phenotype; Severe Combined Immunodeficiency/diagnosis

Key words

Genotype-phenotype correlation; Immune tolerance; RAG; VDJ recombination

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Nuclear Proteins / Severe Combined Immunodeficiency / Homeodomain Proteins / Genetic Predisposition to Disease / DNA-Binding Proteins / V(D)J Recombination Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies Limits: Animals / Humans Language: En Journal: Eur J Immunol Year: 2021 Type: Article Affiliation country: United States

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