A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome
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LETTER TO EDITOR
A Distinct Feature of T Cell Subpopulations in a Patient with CHARGE Syndrome and Omenn Syndrome Toru Uchiyama 1 & Saori Kawakami 2 & Hiroshi Masuda 3 & Kazue Yoshida 4 & Hironori Niizeki 4 & Emi Mochizuki 1 & Kaori Edasawa 1 & Akira Ishiguro 2 & Masafumi Onodera 1 Received: 26 November 2019 / Accepted: 23 September 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
To the editor, CHARGE syndrome (ocular coloboma, heart defects, clonal atresia, retarded growth and development, genitourinary hypoplasia, and ear abnormalities) is a genetic disorder caused by an autosomal dominant mutation in the gene encoding chromodomain helicase DNA-binding protein 7 (CHD7) that affects several signaling pathways and controls organ development [1]. Patients with CHARGE syndrome have clinical overlap with chromosome 22q11.2 deletion syndrome, also referred to as DiGeorge syndrome (DGS), in which the insufficiency of the TBX1 gene causes thymic hypoplasia, conotruncal cardiac defects, and hypoparathyroidism. Although the interaction of CHD7 and TBX1 has not been clearly identified, the presence of a shared embryonic pathway can explain the underlying pathogenesis of abnormal thymic development [2] and the presence of T cell deficiency in patients with thymic aplasia, a feature of severe combined immunodeficiency (SCID). The lack of thymic processing also allows the oligoclonal proliferation of autoreactive T cells, which causes Omenn syndrome [1], typically observed in autosomal recessive SCID; however, the long-term changes in Electronic supplementary material The online version of this article (https://doi.org/10.1007/s10875-020-00875-7) contains supplementary material, which is available to authorized users. * Toru Uchiyama [email protected] 1
Department of Human Genetics, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan
2
Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan
3
Division of General Pediatrics and Interdisciplinary Medicine, National Center for Child Health and Development, Tokyo, Japan
4
Division of Dermatology, Department of Surgical Specialties, National Center for Child Health and Development, Tokyo, Japan
clinical course and immunophenotyping have rarely been reported. Here, we report the fluctuations in symptoms of Omenn syndrome with remarkable changes in T cell phenotype in a patient with CHARGE syndrome. The male patient who had several anomalies at birth, including heart malformations, genital hypoplasia, facial nerve palsy, and external ear malformation, presented a decreased number of lymphocytes and hypocalcemia in clinical tests (Table S1). Immunophenotyping using flow cytometric (FCM) analysis showed a marked decrease in the number of CD3+ T cells (Fig. S1). An increase in the frequency of transitional B cells (CD19+IgMhiCD38hi) implied impaired maturation of B cells. The level of T cell receptor excision circles (TRECs) in a quantitative rea
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