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

Clinical and Experimental Medicine

Volumn 9, Issue 4, 2009, Pages 339-342

  Karaca, Neslihan Edeer ^a   Aksu, Guzide ^a   Genel, Ferah ^b   Gulez, Nesrin ^a   Can, Sema ^a   Aydinok, Yesim ^a   Aksoylar, Serap ^a   Karaca, Emin ^a   Altuglu, Imren ^a   Kutukculer, Necil ^a  

^a EGE UNIVERSITY   (Turkey)

^b DR BEHÇET UZ CHILDREN'S HOSPITAL   (Turkey)

Author keywords

Autoimmunity; CMV; Immunodeficiency; RAG1 mutations

Indexed keywords

ACICLOVIR; B LYMPHOCYTE RECEPTOR; COTRIMOXAZOLE; FOSCARNET; GANCICLOVIR; HYPERIMMUNE GLOBULIN; IMMUNOGLOBULIN; ISONIAZID; RAG1 PROTEIN; RIFAMPICIN; T LYMPHOCYTE RECEPTOR; T LYMPHOCYTE RECEPTOR DELTA CHAIN; T LYMPHOCYTE RECEPTOR GAMMA CHAIN;

ANTIBIOTIC PROPHYLAXIS; ARTICLE; AUTOIMMUNE HEMOLYTIC ANEMIA; AUTOIMMUNITY; BONE MARROW TRANSPLANTATION; CASE REPORT; CD4+ T LYMPHOCYTE; CHILD; CLINICAL FEATURE; CYTOMEGALOVIRUS INFECTION; FEMALE; GENE MUTATION; GENETIC RECOMBINATION; GENOTYPE; HUMAN; IMMUNOGLOBULIN BLOOD LEVEL; INFANT; LYMPHOCYTOPENIA; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEVERE COMBINED IMMUNODEFICIENCY;

CHILD; CYTOMEGALOVIRUS; CYTOMEGALOVIRUS INFECTIONS; FEMALE; GENETIC VARIATION; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MALE; MUTATION; PHENOTYPE; PROGNOSIS; RECEPTORS, ANTIGEN, T-CELL, GAMMA-DELTA; RESPIRATORY TRACT INFECTIONS; SEVERE COMBINED IMMUNODEFICIENCY;

EID: 70349909331     PISSN: 15918890     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10238-009-0053-1     Document Type: Article

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