A biallelic mutation in IL6ST encoding the GP130 coreceptor causes immunodeficiency and craniosynostosis

Journal of Experimental Medicine

Volumn 214, Issue 9, 2017, Pages 2547-2562

  Schwerd, Tobias ^a,d   Twigg, Stephen R F ^a   Aschenbrenner, Dominik ^a   Manrique, Santiago ^b   Miller, Kerry A ^a   Taylor, Indira B ^a   Capitani, Melania ^a   McGowan, Simon J ^a   Sweeney, Elizabeth ^e   Weber, Astrid ^e   Chen, Liye ^a   Bowness, Paul ^a   Riordan, Andrew ^f   Cant, Andrew ^g   Freeman, Alexandra F ^h   Milner, Joshua D ^h   Holland, Steven M ^h   Frede, Natalie ⁱ   Müller, Miryam ^j   Schmidt Arras, Dirk ^j   Grimbacher, Bodo ^i,k   Wall, Steven A ^a   Jones, E Yvonne ^b   Wilkie, Andrew O M ^a   Uhlig, Holm H ^a,c   more..

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^e LIVERPOOL WOMEN'S NHS FOUNDATION TRUST   (United Kingdom)

^f ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^g NEWCASTLE UNIVERSITY   (United Kingdom)

^h NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

ⁱ UNIVERSITY OF FREIBURG   (Germany)

^j UNIVERSITY OF KIEL   (Germany)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBIOTIC AGENT; ANTIHISTAMINIC AGENT; AZITHROMYCIN; GLYCOPROTEIN GP 130; IMMUNOGLOBULIN E; INTERLEUKIN 11; INTERLEUKIN 27; INTERLEUKIN 6; ONCOSTATIN M; STAT3 PROTEIN; IL11 PROTEIN, HUMAN; IL27 PROTEIN, HUMAN; IL6ST PROTEIN, HUMAN; INTERLEUKIN DERIVATIVE;

ACUTE PHASE RESPONSE; ARTICLE; BRAIN INFARCTION; BRONCHIECTASIS; BRONCHOSCOPY; CASE REPORT; CHEST INFECTION; CHEST TUBE; CHILD; CLINICAL ARTICLE; CORNEA ULCER; CRANIOFACIAL SYNOSTOSIS; ECZEMA; EMPYEMA; EOSINOPHIL; EOSINOPHILIA; EXOME; EYE INFECTION; FEMALE; FIBROBLAST; GENE; GENOME; GROUP A STREPTOCOCCAL INFECTION; HUMAN; HUMAN CELL; HYPER IGE SYNDROME; IL6ST GENE; IMMUNE DEFICIENCY; INFANT; INTENSIVE CARE; LOSS OF FUNCTION MUTATION; LYMPHOCYTE SUBPOPULATION; MIDDLE CEREBRAL ARTERY; MISSENSE MUTATION; MIXED INFECTION; NEUTROPHIL; ORBIT CELLULITIS; PNEUMONIA; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT INFECTION; RESPIRATORY BURST; RESPIRATORY TRACT INFECTION; SAGITTAL SINUS THROMBOSIS; SCOLIOSIS; SEPSIS; SKELETON MALFORMATION; SKIN INFECTION; SKULL SURGERY; STROMA CELL; TENSION PNEUMOTHORAX; TOOTH MALFORMATION; DEFICIENCY; GENETICS; PHYSIOLOGY;

CHILD, PRESCHOOL; CRANIOSYNOSTOSES; CYTOKINE RECEPTOR GP130; EXOME; FEMALE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERLEUKIN-11; INTERLEUKIN-6; INTERLEUKINS; MUTATION, MISSENSE;

EID: 85028822001     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20161810     Document Type: Article

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