Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding

Journal of Allergy and Clinical Immunology

Volumn 134, Issue 5, 2014, Pages 1209-1213.e6

  Frans, Glynis ^a   Moens, Leen ^a   Schaballie, Heidi ^a,e   Van Eyck, Lien ^b,e   Borgers, Heleen ^a   Wuyts, Margareta ^a   Dillaerts, Doreen ^a   Vermeulen, Edith ^a   Dooley, James ^b   Grimbacher, Bodo ^c   Cant, Andrew ^d   Declerck, Dominique ^a   Peumans, Marleen ^a   Renard, Marleen ^e   De Boeck, Kris ^e   Hoffman, Ilse ^e   François, Inge ^e   Liston, Adrian ^b   Claessens, Frank ^a   Bossuyt, Xavier ^a   Meyts, Isabelle ^a,e   more..

^a UNIVERSITY OF LEUVEN   (Belgium)

^b Vlaams Instituut Voor Biotechnologie Bio Incubator   (Belgium)

^c UNIVERSITY OF FREIBURG   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AZITHROMYCIN; FLUCONAZOLE; GROWTH HORMONE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN G2; STAT1 PROTEIN; STAT1 PROTEIN, HUMAN;

ADULT; ANTIBODY RESPONSE; BRONCHIECTASIS; CASE REPORT; DECIDUOUS TOOTH; DEPHOSPHORYLATION; DIAPHRAGM HERNIA; DIFFERENTIAL DIAGNOSIS; DNA BINDING; ENAMEL; ESOPHAGUS FUNCTION DISORDER; GAIN OF FUNCTION MUTATION; GASTROINTESTINAL MOTILITY DISORDER; GROWTH RETARDATION; HORMONAL THERAPY; HUMAN; HUMORAL IMMUNE DEFICIENCY; HYPER IGE SYNDROME; HYPOTHYROIDISM; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOPHENOTYPING; IPEX SYNDROME; LETTER; LOWER RESPIRATORY TRACT INFECTION; MALE; MUCOCUTANEOUS CANDIDIASIS; NUCLEAR FACTOR KAPPA BETA ESSENTIAL MODULATOR DEFICIENCY; PHENOTYPE; PNEUMONIA; PROTEIN PHOSPHORYLATION; SEVERE COMBINED IMMUNODEFICIENCY; SHWACHMAN SYNDROME; TOOTH MALFORMATION; ADOLESCENT; CONGENITAL MALFORMATION; GENETICS; MUTATION; PATHOLOGY;

ADOLESCENT; CANDIDIASIS, CHRONIC MUCOCUTANEOUS; DENTAL ENAMEL; HUMANS; MALE; MUTATION; STAT1 TRANSCRIPTION FACTOR; TOOTH ABNORMALITIES;

EID: 84914151539     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.05.044     Document Type: Article

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