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Jorrell Rush-Kittle

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Inborn errors of immunity associated with defects of self‐tolerance checkpoints: The CD28 family

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By Bodo Grimbacher, Jorrell Rush-Kittle, Laura Gámez-Díaz
| Wiley Online Library Verified
2.3 CD28 deficiency Based on the central role of CD28 in the immune system, it would be a sensible hypothesis to predict a severe phenotype for patients with homozygous loss-of-function (LOF) mutations. Nevertheless, a family harboring such a mutation (c.52G > A) was recently described by Beziat et al.,15 whose genotype was only identified due to a particularly severe escalation of a decade-long HPV-2 infection in one individual (P1, 30 m).
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