Varaico: Literature-Extracted Genetic Variants

Gene:PRKCD
Variant:p.G248S
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PRKCD

NM_006254.4:p.G248S

Associated Papers

Protein Kinase Cδ deficiency in Arab children: A link to fatal monogenic lupus and BCGitis susceptibility.

Al-Mayouf SM et al.

Lupus, 2025

Missense variants in PRKCD: elucidating their potential association with breast cancer.

Zafar S et al.

Breast Cancer Research : Bcr, 2025

40722182 (PubMed )
Supplement: 13058_2025_2090_MOESM1_ESM.pdf

Seropositive polyarthritis and diffuse lymphadenopathy associated with PRKCD mutation.

Papa R et al.

Rheumatology (oxford, England), 2024

Phenotypic Variability in PRKCD: a Review of the Literature.

Jefferson L et al.

Journal of Clinical Immunology, 2023

Protein Kinase C-Delta Defect in Autoimmune Lymphoproliferative Syndrome-Like Disease: First Case from the National Iranian Registry and Review of the Literature.

Sharifinejad N et al.

Immunological Investigations, 2022

Impaired respiratory burst contributes to infections in PKCδ-deficient patients.

Neehus AL et al.

The Journal of Experimental Medicine, 2021

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Grossi A et al.

Genes, 2021

Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ.

Lei L et al.

Pediatric Rheumatology Online Journal, 2018

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

Salzer E et al.

Journal of Clinical Immunology, 2016

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

Kiykim A et al.

Journal of Clinical Immunology, 2015

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."