Serum IL-10, MCP-1, and MIP-1β levels........................................Cytokine Profiling in a Familial Case of Autoimmune Lymphoproliferative Syndrome with Co-mutations of FAS and MEFV

Cytokine Profiling in a Familial Case of Autoimmune Lymphoproliferative Syndrome with Co-mutations of FAS and MEFV: Pediatric Allergy, Immunology, and Pulmonology Jun 2017, Vol. 30, No. 2: 120-125.

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Author information

Tatsuro Hatsushika, MD,¹ Masanobu Ushio, MD, PhD,¹ Shinji Suzuki, MD, PhD,¹ Shunsuke Suzuki, MD, PhD,¹ Gaku Yamanaka, MD, PhD,¹ Yasuyo Kashiwagi, MD, PhD,¹ Noriko Yanase, PhD,² and Hisashi Kawashima, MD, PhD¹

¹Department of Pediatrics, Tokyo Medical University, Shinjuku-ku, Tokyo, Japan.

²Department of Immunology, Tokyo Medical University, Shinjuku-ku, Tokyo, Japan.

Address correspondence to:

Hisashi Kawashima, MD

Department of Pediatrics

Tokyo Medical University

6-7-1 Nishishinjuku

Shinjuku-ku

Tokyo 160-0023

Japan
E-mail: hisashi@tokyo-med.ac.jp

Received for publication November 5, 2016
accepted after revision April 7, 2017

ABSTRACT

We performed cytokine profiling in a familial case with co-mutations of FAS and MEFV. The child was referred to our hospital because of splenomegaly. Her mother was hospitalized at a young age because of frequent fever and lymphadenopathy. However, despite several examinations, including bone marrow evaluation, her mother's condition was undiagnosed. Her frequency of fever decreased with age. The number of double-negative T cells increased in both mother and child cases. Their number of apoptotic cells cultured under phytohemagglutinin and interleukin (IL)-2 did not change with the anti-Fas antibody concentration. The genomic study of the proband and mother revealed co-mutations of FAS as p.Leu229fs on exon 9, which is located in the death domain in the intracellular signal pathway, and compound heteromutations as p.L110P and p.E148Q on exon 2 of MEFV. Soluble IL-2R was constantly high in both mother and child cases. Serum IL-10, MCP-1, and MIP-1β levels were high only in the child with recurrent fever. The mother showed a low level of these cytokines, but a relatively high level of IFN-γ. From their history and data, the immunological status, which is correlated with familial Mediterranean fever, might influence apoptosis in autoimmune lymphoproliferative syndrome.

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