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Do microdeletions lead to immune deficiency?

INTRODUCTION: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome. MATERIAL AND METHODS: 39 patients diagnosed with microdeletion syndr...

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Autores principales: KARAMAN, SAIT, HAZAN, FILIZ, ERDEM, SEMIHA BAHÇECI, GÜLEZ, NESRIN, GENEL, FERAH
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226555/
https://www.ncbi.nlm.nih.gov/pubmed/32425682
http://dx.doi.org/10.5114/ceji.2020.94671
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author KARAMAN, SAIT
HAZAN, FILIZ
ERDEM, SEMIHA BAHÇECI
GÜLEZ, NESRIN
GENEL, FERAH
author_facet KARAMAN, SAIT
HAZAN, FILIZ
ERDEM, SEMIHA BAHÇECI
GÜLEZ, NESRIN
GENEL, FERAH
author_sort KARAMAN, SAIT
collection PubMed
description INTRODUCTION: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome. MATERIAL AND METHODS: 39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr. Behcet Uz Children’s Hospital were included in this study. All data for this research were obtained from patient records and by individual consultation with their parents. RESULTS: Of the 39 patients, 15 were monitored for a diagnosis of Williams syndrome, 12 for DiGeorge syndrome, 4 for Prader-Willi syndrome, 2 for Wolf-Hirschhorn syndrome, 1 for a 1p36 deletion, 1 for Smith-Magenis syndrome, 2 for Trichorhinophalangeal syndrome type 2 (TRPS2), and 2 for Cri-du-chat syndrome. Of these 39 patients, 10 (25.6%) had a medical history of frequent upper respiratory tract infections. One of the cases with TRPS2 and another with Smith-Magenis syndrome had previously received intravenous antibiotic therapy for infectious disease. Five of the 12 patients with DiGeorge syndrome had low T lymphocytes. Two of the patients with DiGeorge syndrome with a history of frequent infections, with hypogammaglobinemia, and low lymphocytes were receiving regular intravenous immunoglobulin (IVIG) replacement. CONCLUSIONS: It must be taken into account that patients with microdeletion syndromes, especially those with DiGeorge syndrome, may also have immunodeficiencies; therefore, these patients should be closely monitored to prevent development of any complications.
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spelling pubmed-72265552020-05-18 Do microdeletions lead to immune deficiency? KARAMAN, SAIT HAZAN, FILIZ ERDEM, SEMIHA BAHÇECI GÜLEZ, NESRIN GENEL, FERAH Cent Eur J Immunol Clinical Immunology INTRODUCTION: Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome. MATERIAL AND METHODS: 39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr. Behcet Uz Children’s Hospital were included in this study. All data for this research were obtained from patient records and by individual consultation with their parents. RESULTS: Of the 39 patients, 15 were monitored for a diagnosis of Williams syndrome, 12 for DiGeorge syndrome, 4 for Prader-Willi syndrome, 2 for Wolf-Hirschhorn syndrome, 1 for a 1p36 deletion, 1 for Smith-Magenis syndrome, 2 for Trichorhinophalangeal syndrome type 2 (TRPS2), and 2 for Cri-du-chat syndrome. Of these 39 patients, 10 (25.6%) had a medical history of frequent upper respiratory tract infections. One of the cases with TRPS2 and another with Smith-Magenis syndrome had previously received intravenous antibiotic therapy for infectious disease. Five of the 12 patients with DiGeorge syndrome had low T lymphocytes. Two of the patients with DiGeorge syndrome with a history of frequent infections, with hypogammaglobinemia, and low lymphocytes were receiving regular intravenous immunoglobulin (IVIG) replacement. CONCLUSIONS: It must be taken into account that patients with microdeletion syndromes, especially those with DiGeorge syndrome, may also have immunodeficiencies; therefore, these patients should be closely monitored to prevent development of any complications. Termedia Publishing House 2020-04 2020 /pmc/articles/PMC7226555/ /pubmed/32425682 http://dx.doi.org/10.5114/ceji.2020.94671 Text en Copyright © 2020 Termedia http://creativecommons.org/licenses/by-nc-sa/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International (CC BY-NC-SA 4.0). License (http://creativecommons.org/licenses/by-nc-sa/4.0/)
spellingShingle Clinical Immunology
KARAMAN, SAIT
HAZAN, FILIZ
ERDEM, SEMIHA BAHÇECI
GÜLEZ, NESRIN
GENEL, FERAH
Do microdeletions lead to immune deficiency?
title Do microdeletions lead to immune deficiency?
title_full Do microdeletions lead to immune deficiency?
title_fullStr Do microdeletions lead to immune deficiency?
title_full_unstemmed Do microdeletions lead to immune deficiency?
title_short Do microdeletions lead to immune deficiency?
title_sort do microdeletions lead to immune deficiency?
topic Clinical Immunology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226555/
https://www.ncbi.nlm.nih.gov/pubmed/32425682
http://dx.doi.org/10.5114/ceji.2020.94671
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