Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations

Journal of Allergy and Clinical Immunology

Volumn 122, Issue 6, 2008, Pages 1178-1184

  Kavadas, Fotini D ^a   Giliani, Silvia ^b   Gu, Yiping ^a   Mazzolari, Evelina ^b   Bates, Andrea ^a   Pegoiani, Eleonora ^b   Roifman, Chaim M ^a   Notarangelo, Luigi D ^b,c  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b SPEDALI CIVILI   (Italy)

^c BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cartilage hair hypoplasia; CD8 lymphopenia; Omenn syndrome; RNase mitochondrial RNA processing endoribonuclease; severe combined immunodeficiency

Indexed keywords

MITOCHONDRIAL RNA; RIBONUCLEASE;

ADOLESCENT; ADULT; ARTICLE; CARTILAGE HYPOPLASIA; CELL TRANSPLANTATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; LYMPHOCYTOPENIA; MALE; MUTATIONAL ANALYSIS; OUTCOME ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; RMRP GENE; RNA GENE; RNA PROCESSING; T LYMPHOCYTE;

CARTILAGE DISEASES; CD8-POSITIVE T-LYMPHOCYTES; ENDORIBONUCLEASES; FEMALE; GENETIC DISEASES, INBORN; HETEROZYGOTE; HUMANS; LYMPHOPENIA; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PROMOTER REGIONS, GENETIC; RECEPTORS, ANTIGEN, T-CELL, ALPHA-BETA; RETROSPECTIVE STUDIES;

EID: 57149142232     PISSN: 00916749     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaci.2008.07.036     Document Type: Article

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