Article
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Journal of clinical immunology - 1 Nov 2021
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
Abstract excerpt
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 international cohort of 275 patients, of whom 211 had been clinically diagnosed with hyper-IgE syndrome and 64 with chronic...
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