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Publication Type : Journal Article
Publisher : Clinical Immunology
Source : Clinical Immunology, Volume 138, Number 2, p.172-177 (2011)
Keywords : article, autoimmunity, B-Lymphocytes, bronchopneumonia, case report, child, cytomegalovirus infection, Cytomegalovirus Infections, diarrhea, DNA Mutational Analysis, DNA-Binding Proteins, erythroderma, family, female, gene mutation, genetic disorder, genetic recombination, hepatosplenomegaly, Homeodomain Proteins, human, Humans, immunoglobulin deficiency, infant, liver dysfunction, male, missense mutation, Mutation, newborn, Nuclear Proteins, Omenn syndrome, Preschool, preschool child, priority journal, protein deficiency, RAG1 protein, RAG2 protein, recombinant gene, Sepsis, severe combined immunodeficiency, toll like receptor, wild type
Campus : Kochi
School : School of Medicine
Department : Paediatrics
Year : 2011
Abstract : Mutations in the recombination activating genes (RAG1 or RAG2) can lead to a variety of immunodeficiencies. Herein, we report 5 cases of RAG deficiency from 5 families: 3 of Omenn syndrome, 1 of severe combined immunodeficiency, and 1 of combined immunodeficiency with oligoclonal TCR γδ + T cells, autoimmunity and cytomegalovirus infection. The genetic defects were heterogeneous and included 6 novel RAG mutations. All missense mutations except for Met443Ile in RAG2 were located in active core regions of RAG1 or RAG2. V(D)J recombination activity of each mutant was variable, ranging from half of the wild type activity to none, however, a significant decrease in average recombination activity was demonstrated in each patient. The reduced recombination activity of Met443Ile in RAG2 may suggest a crucial role of the non-core region of RAG2 in V(D)J recombination. These findings suggest that functional evaluation together with molecular analysis contributes to our broader understanding of RAG deficiency. © 2010 Elsevier Inc.
Cite this Research Publication : Ea Asai, Wada, Ta, Sakakibara, Ya, Toga, Aa, Toma, Ta, Shimizu, Tb, Nampoothiri, Sc, Imai, Kd, Nonoyama, Sd, Morio, Te, Muramatsu, Hf, Kamachi, Yf, Ohara, Og, and Yachie, Aa, “Analysis of mutations and recombination activity in RAG-deficient patients”, Clinical Immunology, vol. 138, pp. 172-177, 2011.