Jocelyn R Farmer, Zsofia Foldvari, Boglarka Ujhazi, Suk See De Ravin, Karin Chen, Jack J H Bleesing, Catharina Schuetz, Waleed Al-Herz, Roshini S Abraham, Avni Y Joshi, Beatriz T Costa-Carvalho, David Buchbinder, Claire Booth, Andreas Reiff, Polly J Ferguson, Asghar Aghamohammadi, Hassan Abolhassani, Jennifer M Puck, Mehdi Adeli, Caterina Cancrini, Paolo Palma, Alice Bertaina, Franco Locatelli, Gigliola Di Matteo, Raif S Geha, Maria G Kanariou, Lilia Lycopoulou, Marianna Tzanoudaki, John W Sleasman, Suhag Parikh, Gloria Pinero, Bernard M Fischer, Ghassan Dbaibo, Ekrem Unal, Turkan Patiroglu, Musa Karakukcu, Khulood Khalifa Al-Saad, Meredith A Dilley, Sung-Yun Pai, Cullen M Dutmer, Erwin W Gelfand, Christoph B Geier, Martha M Eibl, Hermann M Wolf, Lauren A Henderson, Melissa M Hazen, Carmem Bonfim, Beata Wolska-Kuśnierz, Manish J Butte, Joseph D Hernandez, Sarah K Nicholas, Polina Stepensky, Shanmuganathan Chandrakasan, Maurizio Miano, Emma Westermann-Clark, Vera Goda, Gergely Kriván, Steven M Holland, Olajumoke Fadugba, Sarah E Henrickson, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris, Ayca Kiykim, Robbert Bredius, Birgit Hoeger, Kaan Boztug, Olga Pashchenko, Benedicte Neven, Despina Moshous, Jean-Pierre de Villartay, Ahmed Aziz Bousfiha, Harry R Hill, Luigi D Notarangelo, Jolan E Walter
BACKGROUND: Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE: Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS: In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology...
July 2019: Journal of Allergy and Clinical Immunology in Practice