- Walter, Jolan E;
- Rosen, Lindsey B;
- Csomos, Krisztian;
- Rosenberg, Jacob M;
- Mathew, Divij;
- Keszei, Marton;
- Ujhazi, Boglarka;
- Chen, Karin;
- Lee, Yu Nee;
- Tirosh, Irit;
- Dobbs, Kerry;
- Al-Herz, Waleed;
- Cowan, Morton J;
- Puck, Jennifer;
- Bleesing, Jack J;
- Grimley, Michael S;
- Malech, Harry;
- De Ravin, Suk See;
- Gennery, Andrew R;
- Abraham, Roshini S;
- Joshi, Avni Y;
- Boyce, Thomas G;
- Butte, Manish J;
- Nadeau, Kari C;
- Balboni, Imelda;
- Sullivan, Kathleen E;
- Akhter, Javeed;
- Adeli, Mehdi;
- El-Feky, Reem A;
- El-Ghoneimy, Dalia H;
- Dbaibo, Ghassan;
- Wakim, Rima;
- Azzari, Chiara;
- Palma, Paolo;
- Cancrini, Caterina;
- Capuder, Kelly;
- Condino-Neto, Antonio;
- Costa-Carvalho, Beatriz T;
- Oliveira, Joao Bosco;
- Roifman, Chaim;
- Buchbinder, David;
- Kumanovics, Attila;
- Franco, Jose Luis;
- Niehues, Tim;
- Schuetz, Catharina;
- Kuijpers, Taco;
- Yee, Christina;
- Chou, Janet;
- Masaad, Michel J;
- Geha, Raif;
- Uzel, Gulbu;
- Gelman, Rebecca;
- Holland, Steven M;
- Recher, Mike;
- Utz, Paul J;
- Browne, Sarah K;
- Notarangelo, Luigi D
Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies. Neutralizing anti-IFN-α or anti-IFN-ω antibodies were present at detectable levels in patients with CID-G/AI who had a history of severe viral infections. As this autoantibody profile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurrent or chronic viral infections may precipitate or aggravate immune dysregulation in RAG-deficient hosts. We repeatedly challenged Rag1S723C/S723C mice, which serve as a model of leaky SCID, with agonists of the virus-recognizing receptors TLR3/MDA5, TLR7/-8, and TLR9 and found that this treatment elicits autoantibody production. Altogether, our data demonstrate that immune dysregulation is an integral aspect of RAG-associated immunodeficiency and indicate that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.