Yazar "Garncarz, Wojciech" için listeleme

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    • Selective Loss Of Function Variants In Il6St Cause Hyper-Ige Syndrome With Distinct Impairments Of T-Cell Phenotype And Function 

      Shahin, Tala; Aschenbrenner, Dominik; Cagdas, Deniz; Bal, Sevgi Köstel; Conde, Cecilia Domínguez; Garncarz, Wojciech; Medgyesi, David; Schwerd, Tobias; Karaatmaca, Betül; Cetinkaya, Pınar Gur; Esenboga, Saliha; Twigg, Stephen R. F.; Cant, Andrew; Wilkie, Andrew O. M.; Tezcan, Ilhan; Uhlig, Holm H.; Boztug, Kaan (2019)
      Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. ...