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The Journal of Experimental Medicine|December 25, 2016
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiencyHassan Abolhassani, Emily S J Edwards, Aydan Ikinciogullari, et al.
Genome Medicine|October 15, 2025
A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposureClément Conil, Jonathan Bohlen, Elouise E Kroon, et al.
The Journal of Experimental Medicine|September 21, 2016
Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutationsYi Wang, Cindy S Ma, Yun Ling, et al.
Elife|March 15, 2018
IRF4 haploinsufficiency in a family with Whipple's diseaseAntoine Guérin, Gaspard Kerner, Nico Marr, et al.
Human Molecular Genetics|January 27, 2011
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindredsIthaisa Sologuren, Stéphanie Boisson-Dupuis, Jose Pestano, et al.
Nature Genetics|June 1, 2005
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsGuillaume Vogt, Ariane Chapgier, Kun Yang, et al.
The Journal of Clinical Investigation|October 1, 2024
IL-7-dependent and -independent lineages of IL-7R-dependent human T cellsCarlos A Arango-Franco, Masato Ogishi, Susanne Unger, et al.
The New England Journal of Medicine|March 17, 2016
Loss of B Cells in Patients with Heterozygous Mutations in IKAROSH S Kuehn, B Boisson, C Cunningham-Rundles, et al.
The New England Journal of Medicine|April 29, 2011
IRF8 mutations and human dendritic-cell immunodeficiencySophie Hambleton, Sandra Salem, Jacinta Bustamante, et al.
Biorxiv : the Preprint Server for Biology|August 12, 2024
Mechanism of neurodegeneration mediated by clonal inflammatory microgliaRocio Vicario, Stamatina Fragkogianni, Maria Pokrovskii, et al.
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