A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells
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LETTER TO EDITOR
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells Asena Pınar Sefer 1,2,3 & Louis Marie Charbonnier 4 & Nurhan Kasap 1,2,3 & Bengu Akcam 1,2,3 & Yasemin Kendir Demirkol 5 & Sevgi Bilgic Eltan 1,2,3 & Ahmet Ozen 1,2,3 & Elif Karakoc-Aydiner 1,2,3 & Safa Baris 1,2,3 Received: 4 August 2020 / Accepted: 4 October 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
The inducible T cell co-stimulator (ICOS) is an important costimulatory molecule for the T cells that belongs to the immunoglobulin superfamily of co-receptor molecules like CD28 and cytotoxic T lymphocyte–associated antigen 4 (CTLA4) [1]. ICOS plays an important role in the regulation of the T cell-mediated immune responses and it is expressed only on activated T cells, while its ligand (ICOS-L) is expressed on antigen presenting cells [2, 3]. Co-stimulation via ICOS improves helper T cell functions that is important for the differentiation and proliferation of lymphocyte subsets such as TH1, TH2, TH17, T follicular helper (TFH), and regulatory T (Treg) cells [2, 4]. Moreover, ICOS mediates T and B cells’ interaction, which results in the formation of germinal centers and thus differentiates B cells into memory and long-lived plasma cells [2, 3]. The ICOS deficiency is classified as a combined immunodeficiency (CID) and encompasses broad patient phenotypes with hypogammaglobulinemia, recurrent infections,
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00889-1) contains supplementary material, which is available to authorized users. * Safa Baris [email protected] 1
School of Medicine, Division of Pediatric Allergy and Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey
2
Istanbul Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Istanbul, Turkey
3
The Isil Berat Barlan Center for Translational Medicine, Istanbul, Turkey
4
Division of Immunology, Boston Children’s Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA, USA
5
Umraniye Education and Research Hospital, Department of Pediatric Genetics, Health Science University, Istanbul, Turkey
enteropathies, autoimmunity, lymphoproliferation, and malignancy [5]. Since there are 22 described patients with 8 different mutations in the ICOS gene, we aimed to expand the repertory of the mutations by reporting a patient with novel homozygous ICOS mutation presenting with recurrent respiratory tract infections, diarrhea, and hypogammaglobulinemia accompanied by progressive loss of B cells [2–4, 6–9].
Case Report Sixteen-year-old girl born to non-consanguineous parents from the same small village presented with recurrent lower respiratory tract infections, abdominal pain, and diarrhea. She had recurrent bronchiolitis attacks since the infancy and was hospitalized once because of severe pneumonia. The diarrhea complaint, started when she was 7 years, was watery and occurred 2–3 times a day at intervals
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