Novel RAG2 mutation in a patient with T- B- severe combined immunodeficiency and disseminated BCG disease. 2009

M Sadeghi-Shabestari, and S Vesal, and M Jabbarpour-Bonyadi, and J P de Villatay, and A Fischer, and N Rezaei
Division of Pediatrics Immunology and Allergy, Children's Hospital, Tabriz University of Medical Sciences, Tabriz, Iran. drsadeghim2004@yahoo.com

T-B-NK+ severe combined immunodeficiency (SCID) is an autosomal recessive disease that is caused mainly by a defect in the recombination activating genes (RAG). Patients with SCID usually experience life-threatening opportunistic infections in early infancy and complications after vaccination with bacille Calmette-Guérin (BCG). We report a patient of consanguineous parents who was referred to our center with subaxillary lymphadenitis and respiratory distress. Laboratory studies confirmed the diagnosis of T-B-NK+ SCID and molecular studies revealed homozygous mutations in the RAG2 gene. The patient died despite administration of antituberculosis drugs, antibiotics, and intravenous immunoglobulin. Inoculation of live vaccines such as BCG should be postponed in families with a positive history of SCID until screening tests rule out this condition.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009687 Nuclear Proteins Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus. Nucleolar Protein,Nucleolar Proteins,Nuclear Protein,Protein, Nuclear,Protein, Nucleolar,Proteins, Nuclear,Proteins, Nucleolar
D009894 Opportunistic Infections An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression. Infection, Opportunistic,Infections, Opportunistic,Opportunistic Infection
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D012131 Respiratory Insufficiency Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide from them. (Stedman, 25th ed) Acute Hypercapnic Respiratory Failure,Acute Hypoxemic Respiratory Failure,Hypercapnic Acute Respiratory Failure,Hypercapnic Respiratory Failure,Hypoxemic Acute Respiratory Failure,Hypoxemic Respiratory Failure,Respiratory Depression,Respiratory Failure,Ventilatory Depression,Depressions, Ventilatory,Failure, Hypercapnic Respiratory,Failure, Hypoxemic Respiratory,Failure, Respiratory,Hypercapnic Respiratory Failures,Hypoxemic Respiratory Failures,Respiratory Failure, Hypercapnic,Respiratory Failure, Hypoxemic,Respiratory Failures
D004268 DNA-Binding Proteins Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases. DNA Helix Destabilizing Proteins,DNA-Binding Protein,Single-Stranded DNA Binding Proteins,DNA Binding Protein,DNA Single-Stranded Binding Protein,SS DNA BP,Single-Stranded DNA-Binding Protein,Binding Protein, DNA,DNA Binding Proteins,DNA Single Stranded Binding Protein,DNA-Binding Protein, Single-Stranded,Protein, DNA-Binding,Single Stranded DNA Binding Protein,Single Stranded DNA Binding Proteins
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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