Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings.

Autor:	Roderick, Marion R., Jefferson, Lucy, Renton, William, Belot, Alexandre, Ramanan, Athimalaipet Vaidyanathan, Jolles, Stephen, Bernatoniene, Jolanta, Mathieu, Anne-Laure, Buxton, Chris, Gennery, Andrew R
Předmět:	SEVERE combined immunodeficiency SIBLINGS GRAFT versus host disease
Zdroj:	Journal of Clinical Immunology; May2023, Vol. 43 Issue 4, p703-705, 3p
Abstrakt:	PKC protein was totally absent in both S1 and S2 peripheral blood mononuclear cells, whereas a slight detection of PKC was visible in PBMC of patients carrying the homozygous G510S mutation (Fig. To the Editor, Protein kinase C (PKC ) deficiency has been reported as causing a lymphoproliferative disease with autoimmunity as well as bona fide monogenic lupus [[1]]. [Extracted from the article]
Databáze:	Complementary Index
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