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Journal of Clinical Immunology|May 20, 2023
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 PneumoniaQuentin Philippot, Arnaud Fekkar, Adrian Gervais, et al.
Journal of Human Immunity|December 15, 2025
Intronic branchpoint-to-acceptor variants underlying inborn errors of immunityNajiba Alioua, Nathalie Lambert, Mathilde Puel, et al.
Medrxiv : the Preprint Server for Health Sciences|May 27, 2024
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulationQuentin Riller, Boris Sorin, Charline Courteille, et al.
The Journal of Experimental Medicine|January 15, 2025
Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humansQuentin Riller, Boris Sorin, Charline Courteille, et al.
The Journal of Experimental Medicine|July 15, 2021
Impaired respiratory burst contributes to infections in PKCδ-deficient patientsAnna-Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, et al.
The Journal of Experimental Medicine|September 24, 2024
Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patientsAdrian Gervais, Astrid Marchal, Andrea Fortova, et al.
The Journal of Clinical Investigation|March 12, 2024
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individualsJessica N Peel, Rui Yang, Tom Le Voyer, et al.
The Journal of Experimental Medicine|July 16, 2026
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)Conor Gruber, Meredith Ramba, Bineeta Debnath, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial diseaseTom Le Voyer, Anna-Lena Neehus, Rui Yang, et al.
The Journal of Experimental Medicine|April 2, 2024
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitisMichael E Horesh, Marta Martin-Fernandez, Conor Gruber, et al.
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