A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset

Clinical Immunology

Volumn 145, Issue 1, 2012, Pages 77-81

  Altiok, Ender ^a,f   Aksoy, Figen ^b   Perk, Yldz ^b   Taylan, Fulya ^c   Kim, Peter W ^d   Ilkkan, Barbaros ^b   Asal, Gülten Turkkani ^e   Goldbach Mansky, Raphaela ^d   Sanal, Ozden ^e  

^a ACIBADEM UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c Acibadem Genetika   (Turkey)

^d NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^e HACETTEPE UNIVERSITY   (Turkey)

^f OKAN UNIVERSITY   (Turkey)

Author keywords

Autoinflammatory syndrome; Deficiency of interleukin 1 receptor antagonist; Immunodeficiency; Intrauterine onset

Indexed keywords

INTERLEUKIN 1 RECEPTOR; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; MUTANT PROTEIN; RECOMBINANT INTERLEUKIN 1 RECEPTOR BLOCKING AGENT;

ARTICLE; AUTOINFLAMMATORY DISEASE; BACTERIAL INFECTION; CASE REPORT; CHILD DEATH; FATALITY; FEMALE; FETUS; FETUS DEATH; FOUNDER EFFECT; HUMAN; HUMAN TISSUE; INFANT; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT DEFICIENCY; MALE; NONSENSE MUTATION; PREDICTION; PREMATURITY; PRIORITY JOURNAL; TURKEY (REPUBLIC);

CONSANGUINITY; FATAL OUTCOME; FEMALE; FETAL DEATH; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT, NEWBORN; INTERLEUKIN 1 RECEPTOR ANTAGONIST PROTEIN; INTERLEUKIN-1ALPHA; MALE; MODELS, MOLECULAR; MUTATION; RECEPTORS, INTERLEUKIN-1; SIBLINGS; SIGNAL TRANSDUCTION; TURKEY;

EID: 84865474221     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2012.08.003     Document Type: Article

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