Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation

Journal of Allergy and Clinical Immunology

Volumn 141, Issue 6, 2018, Pages 2234-2248

  Bigley, Venetia ^a,b   Maisuria, Sheetal ^c   Cytlak, Urszula ^a   Jardine, Laura ^a,b   Care, Matthew A ^c   Green, Kile ^a   Gunawan, Merry ^a,g   Milne, Paul ^a   Dickinson, Rachel ^a   Wiscombe, Sarah ^a   Parry, David ^d,h   Doffinger, Rainer ^e   Laurence, Arian ^a,b   Fonseca, Claudia ^f   Stoevesandt, Oda ^f   Gennery, Andrew ^a,b   Cant, Andrew ^b   Tooze, Reuben ^c   Simpson, A John ^a,b   Hambleton, Sophie ^a,b   Savic, Sinisa ^c   Doody, Gina ^c   Collin, Matthew ^a,b   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c UNIVERSITY OF LEEDS   (United Kingdom)

^d UNIVERSITY OF LEEDS   (United Kingdom)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f Cambridge Protein Arrays Ltd   (United Kingdom)

^g INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^h UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

dendritic cell; immunodeficiency; interferon; Interferon regulatory factor 8; monocyte; myeloproliferation

Indexed keywords

BATF PROTEIN; CHEMOKINE RECEPTOR CXCR3; GAMMA INTERFERON; GRANULOCYTE MACROPHAGE COLONY STIMULATING FACTOR; INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; INTERLEUKIN 10; INTERLEUKIN 13; INTERLEUKIN 17; INTERLEUKIN 2; INTERLEUKIN 21; INTERLEUKIN 22; INTERLEUKIN 4; INTERLEUKIN 5; PROTEIN; PROTEIN C JUN; UNCLASSIFIED DRUG; INTERFERON REGULATORY FACTOR;

ARTICLE; B LYMPHOCYTE; BLOOD; BRAIN CALCIFICATION; CD8+ T LYMPHOCYTE; CELL DIFFERENTIATION; CELL MATURATION; CELL NUCLEUS; CONTROLLED STUDY; CYTOKINE RELEASE; DENDRITIC CELL; DERMIS; DYSPLASIA; FEMALE; GENE EXPRESSION; GENE MUTATION; GRANULOCYTE; GRANULOPOIESIS; HEMATOPOIESIS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNE DYSREGULATION; LUNG LAVAGE; MACROPHAGE; MALE; MEMORY CELL; MONOCYTE; MONOCYTOPENIA; MYELOPROLIFERATIVE DISORDER; NATURAL KILLER CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PROTEIN TRANSPORT; TH1 CELL; TH17 CELL; CASE REPORT; GENETICS; IMMUNOLOGY; MUTATION; PATHOLOGY;

DENDRITIC CELLS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INTERFERON REGULATORY FACTORS; MALE; MONOCYTES; MUTATION;

EID: 85039429317     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2017.08.044     Document Type: Article

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