Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis

Hyper-IgE syndromes and chronic mucocutaneous candidiasis constitute rare primary immunodeficiency syndromes with an overlapping clinical phenotype. In recent years, a growing number of underlying genetic defects have been identified. To characterize the underlying genetic defects in a large interna...

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Veröffentlicht in:	Journal of clinical immunology 2021-11, Vol.41 (8), p.1804-1838
Hauptverfasser:	Frede, Natalie, Rojas-Restrepo, Jessica, Caballero Garcia de Oteyza, Andrés, Buchta, Mary, Hübscher, Katrin, Gámez-Díaz, Laura, Proietti, Michele, Saghafi, Shiva, Chavoshzadeh, Zahra, Soler-Palacin, Pere, Galal, Nermeen, Adeli, Mehdi, Aldave-Becerra, Juan Carlos, Al-Ddafari, Moudjahed Saleh, Ardenyz, Ömür, Atkinson, T. Prescott, Kut, Fulya Bektas, Çelmeli, Fatih, Rees, Helen, Kilic, Sara S., Kirovski, Ilija, Klein, Christoph, Kobbe, Robin, Korganow, Anne-Sophie, Lilic, Desa, Lunt, Peter, Makwana, Niten, Metin, Ayse, Özgür, Tuba Turul, Karakas, Ayse Akman, Seneviratne, Suranjith, Sherkat, Roya, Sousa, Ana Berta, Unal, Ekrem, Patiroglu, Turkan, Wahn, Volker, von Bernuth, Horst, Whiteford, Margo, Doffinger, Rainer, Jouhadi, Zineb, Grimbacher, Bodo
Format:	Artikel
Sprache:	eng
Schlagworte:	Abscesses Adolescent Adult Biomedical and Life Sciences Biomedicine Candidiasis Candidiasis, Chronic Mucocutaneous - blood Candidiasis, Chronic Mucocutaneous - genetics Child Child, Preschool Chronic mucocutaneous candidiasis Cohort Studies Eczema Eczema - genetics Eosinophilia Eosinophilia - genetics Female Genetic analysis Genetic screening Humans Immunodeficiency Immunoglobulin E Immunoglobulin E - blood Immunology Infant Infectious Diseases Interleukin 1 Internal Medicine Job Syndrome - blood Job Syndrome - genetics Job's syndrome Life Sciences Male Medical Microbiology Middle Aged Mutation Original Original Article Patients Phenotypes Primary immunodeficiencies Stat1 protein Stat3 protein Young Adult
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