Munc13‐4 deficiency with CD5 downregulation on activated CD8+ T cells

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; pe...

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Bibliographic Details
Published in:Pediatrics international 2014-08, Vol.56 (4), p.605-608
Main Authors: Wada, Taizo, Yasumi, Takahiro, Toma, Tomoko, Hori, Masayuki, Maeda, Sayaka, Umeda, Katsutsugu, Heike, Toshio, Adachi, Souichi, Usami, Ikuya, Yachie, Akihiro
Format: Article
Language:English
Subjects:
CD5
CD5 Antigens - physiology
CD8+ T cells
CD8-Positive T-Lymphocytes - physiology
Cytokines
Down-Regulation
familial hemophagocytic lymphohistiocytosis
Genetic markers
Humans
Infant
Lymphocyte Activation
Lymphocytes
Lymphohistiocytosis, Hemophagocytic - etiology
Male
Membrane Proteins - deficiency
Munc13‐4
Pediatrics
T cell receptors
UNC13D
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Summary: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.
ISSN:1328-8067
1442-200X
DOI:10.1111/ped.12290