eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Subscription Contact Instructions for authors Ethical standards and procedures
SCImago Journal & Country Rank
1/2020
vol. 45
 
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abstract:
Clinical immunology

Do microdeletions lead to immune deficiency?

Sait Karaman
1
,
Filiz Hazan
2
,
Semiha Bahçeci Erdem
1
,
Nesrin Gülez
1
,
Ferah Genel
1

1.
Department of Pediatric Allergy and Immunology, Dr Behçet Uz Children’s Hospital, Izmir, Turkey
2.
Department of Medical Genetics, Dr Behcet Uz Children’s Hospital, Izmir, Turkey
(Centr Eur J Immunol 2020; 45 (1): 69-72)
Online publish date: 2020/04/06
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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.

keywords:

children, immunodeficiency, microdeletion

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