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Article

A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

Journal of clinical immunology - 1 Jan 2017

Hori Masayuki, Yasumi Takahiro, Shimodera Saeko, Shibata Hirofumi, Hiejima Eitaro, Oda Hirotsugu, Izawa Kazushi, Kawai Tomoki, Ishimura Masataka, Nakano Naoko, Shirakawa Ryutaro, Nishikomori Ryuta, Takada Hidetoshi, Morita Satoshi, Horiuchi Hisanori, Ohara Osamu, Ishii Eiichi, Heike Toshio

Abstract excerpt

PURPOSE: Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) is a genetic disorder that results in immune dysregulation. It requires prompt and accurate diagnosis. A natural killer (NK) cell degranulation assay is often used to screen for FHL3 patients. However, we recently encountered two cases of late-onset FHL3 carrying novel UNC13D missense mutations: in these cases, the degranulation assays using...

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Share to CD57 Antigens
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Killer Cells, Natural

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Source

Identifiers

PMID: 27896523
DOI: 10.1007/s10875-016-0357-3

Genes

FHL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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