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- Title
Munc13-4 deficiency with CD5 downregulation on activated CD8<sup>+</sup> T cells.
- Authors
Wada, Taizo; Yasumi, Takahiro; Toma, Tomoko; Hori, Masayuki; Maeda, Sayaka; Umeda, Katsutsugu; Heike, Toshio; Adachi, Souichi; Usami, Ikuya; Yachie, Akihiro
- Abstract
Familial hemophagocytic lymphohistiocytosis ( FHL) is characterized by uncontrolled activation of T cells and macrophages and hypercytokinemia. We have recently described a significant increase in a subpopulation of CD8+ T cells with downregulation of CD5 during the acute phase of FHL type2 ( FHL2; perforin deficiency), which declines after successful treatment, with a concomitant reduction in serum cytokine level. This unusual subset of CD8+ T cells, however, has not been characterized in patients with other subtypes of FHL. Herein, we describe a patient with FHL3 ( Munc13-4 deficiency) carrying compound heterozygous mutations in the UNC13D gene. He had high serum levels of pro-inflammatory cytokines and significantly increased activated CD8+ T cells with downregulation of CD5 during the acute phase, similar to that found in FHL2. This immunophenotypic feature may serve as a useful marker of immune dysregulation in FHL3 in addition to FHL2.
- Subjects
HEMOPHAGOCYTIC lymphohistiocytosis; T cells; GENETICS
- Publication
Pediatrics International, 2014, Vol 56, Issue 4, p605
- ISSN
1328-8067
- Publication type
Article
- DOI
10.1111/ped.12290