Immunological Profiling of Patients with Rare Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH) Syndrome

DOI

10.2991/ahsr.k.220103.052How to use a DOI?

Keywords

immunological profiling; rare short stature; optic nerve atrophy; Pelger-Huet anomaly (SOPH) syndrome

Abstract

SOPH syndrome (SOPH; MIM# 614800) is a rare hereditary monogenic disease caused by a mutation in the NBAS gene. The clinical spectrum of this disease affects many symptoms such as skeletal dysplasia, atrophy of the optic nerves, Pelger’s leukocyte abnormality. While the somatic manifestations of this disease are known and the genetic cause has been identified, the involvement of immunological disorders in the pathogenesis of the disease remains unknown. Also, mutations in the NBAS gene are the cause of isolated recurrent liver failure, precipitated by infantile liver failure syndrome 2 (ILFS2; MIM#616483) and other combined phenotypes. An analysis of the immunological status of patients with SOPH syndrome was carried out in order to detect disorders in cellular and humoral immunity. A significant decrease in the level of immunoglobulins (IgA, IgM, IgG, IgE) and the level of NK cells was found. These studies will help in the future to establish a reliable pathogenesis of the disease and to find approaches to the treatment of patients with disorders in the NBAS gene.

Copyright

© 2022 The Authors. Published by Atlantis Press International B.V.

Open Access

This is an open access article under the CC BY-NC license.

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TY  - CONF
AU  - L.R. Zhozhikov
AU  - F.F. Vasilev
AU  - N.R. Maksimova
PY  - 2022
DA  - 2022/01/17
TI  - Immunological Profiling of Patients with Rare Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly (SOPH) Syndrome
BT  - Proceedings of the Conference on Health and Wellbeing in Modern Society (CHW 2021)
PB  - Atlantis Press
SP  - 261
EP  - 264
SN  - 2468-5739
UR  - https://doi.org/10.2991/ahsr.k.220103.052
DO  - 10.2991/ahsr.k.220103.052
ID  - Zhozhikov2022
ER  -