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Article

Sirolimus is effective in autoimmune lymphoproliferative syndrome-type III: A pedigree case report with homozygous variation PRKCD.

International journal of immunopathology and pharmacology - 1 Jan 2000

Gu Hao, Chen Zhenping, Ma Jie, Wang Jing, Zhang Rui, Wu Runhui, Wang Tianyou

Abstract excerpt

Autoimmune lymphoproliferative syndrome (ALPS) usually presents in childhood with fever, nonmalignant splenomegaly, and lymphadenopathy along with cytopenia, which is caused by mutations in the FAS apoptotic pathway. The TCRαβ + CD4/CD8 double-negative T cells (DNT), one of required criteria of ALPS, will rise markedly in ALPS. Human Protein kinase C delta (PRKCD) deficiency (OMIM # 615559) was recently...

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Identifiers

PMID: 34187243
DOI: 10.1177/20587384211025934
PMCID: PMC8252363

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