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Cell|July 2, 2021
Humans with inherited T cell CD28 deficiency are susceptible to skin papillomaviruses but are otherwise healthyVivien Béziat, Franck Rapaport, Jiafen Hu, et al.
Cell|December 29, 2023
Human inherited CCR2 deficiency underlies progressive polycystic lung diseaseAnna-Lena Neehus, Brenna Carey, Marija Landekic, et al.
Nature Immunology|January 16, 2026
Somatic deficiency of the human E3 ubiquitin ligase CBL in leukocytes impairs B cell but not T cell development and functionTaja Vatovec, Anna-Lena Neehus, Katherine J L Jackson, et al.
The Journal of Experimental Medicine|July 9, 2026
Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosisDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.
Biorxiv : the Preprint Server for Biology|April 3, 2026
Homozygosity for rare or common hypomorphic IL23R variants confers a predisposition to tuberculosis in humansDiana Olguín Calderón, Laura E Kilpatrick, Clément Conil, et al.
Science (New York, N.Y.)|February 29, 2024
The immunopathological landscape of human pre-TCRα deficiency: From rare to common variantsMarie Materna, Ottavia M Delmonte, Marita Bosticardo, et al.
Science Immunology|August 20, 2021
X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19Takaki Asano, Bertrand Boisson, Fanny Onodi, et al.
The Journal of Experimental Medicine|March 8, 2023
Human germline heterozygous gain-of-function STAT6 variants cause severe allergic diseaseMehul Sharma, Daniel Leung, Mana Momenilandi, et al.
Genome Medicine|April 5, 2023
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
Medrxiv : the Preprint Server for Health Sciences|November 3, 2022
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, et al.
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