A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations

Journal of Clinical Investigation

Volumn 127, Issue 12, 2017, Pages 4415-4420

  Hoyos Bachiloglu, Rodrigo ^a   Chou, Janet ^a   Sodroski, Catherine N ^b   Beano, Abdallah ^a   Bainter, Wayne ^a   Angelova, Magdalena ^b   Al Idrissi, Eman ^c   Habazi, Murad K ^c   Alghamdi, Hamza Ali ^c   Almanjomi, Fahd ^c   Al Shehri, Mohamed ^c   Elsidig, Nagi ^c   Eldin, Morsi Alaa ^c   Knipe, David M ^b   AlZahrani, Mofareh ^c   Geha, Raif S ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA INTERFERON RECEPTOR; IFNAR1 PROTEIN; IFNGR 2 PROTEIN; PROTEIN; STAT1 PROTEIN; STAT2 PROTEIN; UNCLASSIFIED DRUG; ALPHA BETA INTERFERON RECEPTOR; IFNAR1 PROTEIN, HUMAN; IFNGR2 PROTEIN, HUMAN; INTERFERON RECEPTOR; STAT1 PROTEIN, HUMAN; STAT2 PROTEIN, HUMAN;

ARTICLE; BACTEREMIA; CARBOXY TERMINAL SEQUENCE; CONTROLLED STUDY; CYTOMEGALOVIRUS INFECTION; DELETION MUTANT; DOWNSTREAM PROCESSING; FIBROBLAST; FRAMESHIFT MUTATION; GENETIC IDENTIFICATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN IMMUNODEFICIENCY VIRUS; HUMAN IMMUNODEFICIENCY VIRUS INFECTION; MYCOBACTERIUM ABSCESSUS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; STOP CODON; STREPTOCOCCUS VIRIDANS INFECTION; VIREMIA; WHOLE EXOME SEQUENCING; ALPHA HEMOLYTIC STREPTOCOCCUS; ATYPICAL MYCOBACTERIOSIS; CLINICAL TRIAL; CYTOMEGALOVIRUS; FEMALE; GENETIC DISORDER; GENETICS; IMMUNE DEFICIENCY; IMMUNOLOGY; MALE; MICROBIOLOGY; MUTATION; PHOSPHORYLATION; STREPTOCOCCUS INFECTION; VIROLOGY;

BACTEREMIA; CYTOMEGALOVIRUS; CYTOMEGALOVIRUS INFECTIONS; FEMALE; FIBROBLASTS; GENETIC DISEASES, INBORN; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; MYCOBACTERIUM ABSCESSUS; MYCOBACTERIUM INFECTIONS, NONTUBERCULOUS; PHOSPHORYLATION; RECEPTOR, INTERFERON ALPHA-BETA; RECEPTORS, INTERFERON; STAT1 TRANSCRIPTION FACTOR; STAT2 TRANSCRIPTION FACTOR; STREPTOCOCCAL INFECTIONS; VIREMIA; VIRIDANS STREPTOCOCCI;

EID: 85037087997     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI93486     Document Type: Article

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