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Allergy|May 1, 2022
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiencyMehmet C Catak, Bengu Akcam, Sevgi Bilgic Eltan, et al.
The Journal of Allergy and Clinical Immunology|December 17, 2009
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndromeKarin R Engelhardt, Sean McGhee, Sabine Winkler, et al.
The Journal of Allergy and Clinical Immunology. in Practice|June 26, 2019
Abatacept as a Long-Term Targeted Therapy for LRBA DeficiencyAyca Kiykim, Ismail Ogulur, Esra Dursun, et al.
The Journal of Experimental Medicine|December 16, 2024
A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunityFahd Al Qureshah, Jérémie Le Pen, Nicole A de Weerd, et al.
The Journal of Experimental Medicine|November 3, 2022
Inherited human ITK deficiency impairs IFN-γ immunity and underlies tuberculosisMasato Ogishi, Rui Yang, Rémy Rodriguez, et al.
Journal of Clinical Immunology|July 2, 2024
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in TürkiyeBaran Erman, Umran Aba, Canberk Ipsir, et al.
The Journal of Experimental Medicine|June 16, 2022
Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumoniaQian Zhang, Daniela Matuozzo, Jérémie Le Pen, et al.
The Journal of Experimental Medicine|July 18, 2024
SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiencyYi-Hao Chan, Vanja Lundberg, Jérémie Le Pen, et al.
The New England Journal of Medicine|June 18, 2015
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive InfectionsKerry Dobbs, Cecilia Domínguez Conde, Shen-Ying Zhang, et al.
The Journal of Allergy and Clinical Immunology|December 31, 2019
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) scoreVictoria Katharina Tesch, Hassan Abolhassani, Bella Shadur, et al.
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