Samaneh Delavari, Seyed Erfan Rasouli, Saba Fekrvand, Zahra Chavoshzade, Seyed Alireza Mahdaviani, Paniz Shirmast, Samin Sharafian, Roya Sherkat, Tooba Momen, Soheila Aleyasin, Hamid Ahanchian, Mahnaz Sadeghi-Shabestari, Hossein Esmaeilzadeh, Sahar Barzamini, Fateme Tarighatmonfared, Helia Salehi, Marzie Esmaeili, Zahra Marzani, Nazanin Fathi, Farhad Abolnezhadian, Mina Kianmanesh Rad, Ali Saeedi-Boroujeni, Afshin Shirkani, Zahra Bagheri, Fereshte Salami, Tannaz Moeini Shad, Mahsa Yousefpour Marzbali, Hanieh Mojtahedi, Azadehsadat Razavi, Naeimeh Tavakolinia, Taher Cheraghi, Marzieh Tavakol, Alireza Shafiei, Nasrin Behniafard, Sare Sadat Ebrahimi, Najmeh Sepahi, Amirhossein Ghaneimoghadam, Arezou Rezaei, Arash Kalantari, Hassan Abolhassani, Nima Rezaei
BACKGROUND: Inborn errors of immunity (IEI) are a diverse range of genetic immune system illnesses affecting the innate and/or adaptive immune systems. Variable expressivity and incomplete penetrance have been reported in IEI patients with similar clinical diagnoses or even the same genetic mutation. METHODS: Among all recorded patients in the national IEI registry, 193 families with multiple cases have been recognized. Clinical, laboratory and genetic variability were compared between 451 patients with different IEI entities...
January 4, 2024: Clinical Immunology: the Official Journal of the Clinical Immunology Society