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

Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors i...

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Bibliographic Details
Published in:Clinical and experimental medicine 2009-12, Vol.9 (4), p.339-342, Article 339
Main Authors: Karaca, Neslihan Edeer, Aksu, Guzide, Genel, Ferah, Gulez, Nesrin, Can, Sema, Aydinok, Yesim, Aksoylar, Serap, Karaca, Emin, Altuglu, Imren, Kutukculer, Necil
Format: Article
Language:English
Subjects:
Autoimmune hemolytic anemia
Autoimmunity
Case Report
Case studies
CD4 antigen
Child
Cytomegalovirus - genetics
Cytomegalovirus - immunology
Cytomegalovirus Infections - genetics
Cytomegalovirus Infections - immunology
Cytomegalovirus Infections - therapy
Female
Genes
Genetic disorders
Genetic Variation
Genotype
Hematology
Hemolytic anemia
Homeodomain Proteins - genetics
Humans
Immune system
Infant
Internal Medicine
LIG4 protein
Lymphocytes T
Lymphopenia
Male
Medicine
Medicine & Public Health
Mutation
Mutation - genetics
Oncology
Phenotype
Prognosis
RAG1 protein
RAG2 protein
Receptors, Antigen, T-Cell, gamma-delta - genetics
Receptors, Antigen, T-Cell, gamma-delta - immunology
Respiratory Tract Infections - genetics
Respiratory Tract Infections - immunology
Respiratory Tract Infections - therapy
Severe combined immunodeficiency
Severe Combined Immunodeficiency - genetics
Severe Combined Immunodeficiency - therapy
V(D)J recombination
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Summary:Severe combined immunodeficiencies (SCID) comprise a spectrum of genetic defects that involve both humoral and cellular immunities. Defects in recombinating activating gene 1 (RAG1), RAG2, Artemis, or LIG4 can disrupt V(D)J recombination. Defective V(D)J recombination of the T and B cell receptors is responsible for T − B − NK + SCID. Amorphic mutations in RAG1 and RAG2 cause T − B − NK + SCID, whereas hypomorphic mutations cause an immunodeficency characterized by oligoclonal expansion of TCRγδ T cells, severe CMV infection and autoimmunity. First patient is a typical T − B − NK + SCID with clinical and immunologic findings while the second is atypical with normal immunoglobulin levels, CD4 lymphopenia, elevated TCRγδ T cells, persistent CMV infection, and autoimmune hemolytic anemia. These cases are presented to emphasize that mutations in RAG1 gene may lead to a diverse spectrum of clinical and immunologic findings while hypomorphic mutations may be related with autoimmunity and refractory CMV infection during infancy.
ISSN:1591-8890
1591-9528
DOI:10.1007/s10238-009-0053-1