PubMed · 2011 · 16 citations · 11 references
Life SciencesGeneticsMolecular GeneticsImmunogeneticsImmunopathologyMedical GeneticsGenetic DisordersImmunogenomicsInterleukin Gene VariantsMutation AnalysisMutation ScreeningVariant DetectionGenetic Mutation DetectionGermline MutationsImmune Regulatory Gene VariantsImmune Response Gene VariantsImmune System DisruptionPathogenic Variant DetectionRag1 DeficiencyRag2 Deficiency
SCID disorder is major failure of the immune system, usually genetic. The aim of this study was on mutations detection of RAG1, RAG2, and IL7RG genes in SCID cases. Mutation detection was performed by PCR sequencing. Our results indicated that 13 mutations were found through cases which include 4 mutations in IL7R gene (T661I, I138V, T56A, C57W), 7 mutations in RAG1 (W896X, W204R, M324V, T731I, M1006V, K820R, and R249H), and 2 mutations in RAG2 gene (R229W, ΔT251).
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Defective IL7R expression in T-B+NK+ severe combined immunodeficiency
Anne Puel, Steven F. Ziegler, Rebecca H. Buckley et al. · Nature Genetics · 1998 · 814 citations
Life Sciences, Immunology, Pathology +11
Expression and V(D)J recombination activity of mutated RAG-1 proteins
Moshe J. Sadofsky, Joanne E. Hesse, J. Fraser McBlane et al. · Nucleic Acids Research · 1994 · 193 citations · Full text
20 years of gene therapy for SCID
Alain Fischer, Salima Hacein‐Bey‐Abina, Marina Cavazzana · Nature Immunology · 2010 · 159 citations