Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

  title={Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.},
  author={Kerry Dobbs and Cecilia Dom{\'i}nguez Conde and S Zhang and Silvia Parolini and Magali Audry and Janet Chou and Emma M. Haapaniemi and Sevgi Keles and Ivan Bili{\'c} and Satoshi Okada and Michel J. Massaad and Samuli Rounioja and Adel M Alwahadneh and Nina Kathrin Serwas and Kelly Capuder and Ergin Çiftçi and Kerstin Felgentreff and Toshiro K. Ohsumi and Vincent Pedergnana and Bertrand Boisson and Şule Haskoloğlu and Arzu Ensari and Michael Schuster and Alessandro Moretta and Yuval Itan and Ornella Patrizi and Flore Rozenberg and Pierre Lebon and Janna Saarela and Mikael Knip and Slav{\'e} Petrovski and David K. Goldstein and Roberta E. Parrott and Berna Savaş and Axel Schambach and Giovanna Tabellini and Christoph Bock and Talal A Chatila and Anne Marie Comeau and Raif S Geha and Laurent Abel and Rebecca H Buckley and Aydan Ikincioğulları and Waleed Al-Herz and Merja Helminen and Figen Doğu and J. Hugo P{\'e}rez Casanova and Kaan Boztug and Luigi D Notarangelo},
  journal={The New England journal of medicine},
  volume={372 25},
Background Combined immunodeficiencies are marked by inborn errors of T-cell immunity in which the T cells that are present are quantitatively or functionally deficient. Impaired humoral immunity is also common. Patients have severe infections, autoimmunity, or both. The specific molecular, cellular, and clinical features of many types of combined immunodeficiencies remain unknown. Methods We performed genetic and cellular immunologic studies involving five unrelated children with early-onset… CONTINUE READING
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