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A Herpes Simplex Virus 1 DNA Polymerase Multidrug Resistance Mutation Identified in a Patient With Immunodeficiency and Confirmed by Gene Editing.
Schalkwijk HH, Georgala A, Gillemot S, Temblador A, Topalis D, Wittnebel S, Andrei G, Snoeck R. Schalkwijk HH, et al. J Infect Dis. 2023 Nov 28;228(11):1505-1515. doi: 10.1093/infdis/jiad184. J Infect Dis. 2023. PMID: 37224525
METHODS: Seventeen herpes simplex virus 1 isolates were obtained from orofacial/anogenital lesions in a patient with leaky severe combined immunodeficiency over 7 years, before and after stem cell transplantation. ...
METHODS: Seventeen herpes simplex virus 1 isolates were obtained from orofacial/anogenital lesions in a patient with leaky severe …
Cytotoxic T-lymphocyte-associated protein 4-Ig effectively controls immune activation and inflammatory disease in a novel murine model of leaky severe combined immunodeficiency.
Humblet-Baron S, Schönefeldt S, Garcia-Perez JE, Baron F, Pasciuto E, Liston A. Humblet-Baron S, et al. J Allergy Clin Immunol. 2017 Nov;140(5):1394-1403.e8. doi: 10.1016/j.jaci.2016.12.968. Epub 2017 Feb 7. J Allergy Clin Immunol. 2017. PMID: 28185879 Free article.
Hypomorphic mutations in the same genes can also give rise to a partial loss of T cells in a spectrum including leaky severe combined immunodeficiency (LS) and Omenn syndrome (OS). ...
Hypomorphic mutations in the same genes can also give rise to a partial loss of T cells in a spectrum including leaky severe …
Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.
Esenboga S, Akal C, Karaatmaca B, Erman B, Dogan S, Orhan D, Boztug K, Ayvaz D, Tezcan İ. Esenboga S, et al. Clin Immunol. 2018 Dec;197:1-5. doi: 10.1016/j.clim.2018.08.002. Epub 2018 Aug 16. Clin Immunol. 2018. PMID: 30121298 Review.
V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a critical process in B and T cell development.Null mutations of each enzyme or protein of this pathway result in T- B- NK+ severe combined imm …
V(D)J recombination, during which recognition and repair of broken DNA chains are accomplished by non-homologous end joining pathway, is a c …