Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.
Autoimmune Diseases
/ genetics
Autoimmunity
Child
Child, Preschool
DiGeorge Syndrome
/ diagnosis
Disease Susceptibility
/ immunology
Female
France
/ epidemiology
Humans
Hypersensitivity
/ genetics
Immunoglobulin Isotypes
/ blood
Infant
Infections
/ etiology
Male
Phenotype
Prevalence
Severity of Illness Index
T-Lymphocyte Subsets
/ immunology
22q11 deletion syndrome
autoimmunity
dysimmunity
infections
lymphocytes
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
11 2019
11 2019
Historique:
received:
04
04
2019
revised:
26
07
2019
accepted:
05
08
2019
pubmed:
1
9
2019
medline:
5
8
2020
entrez:
1
9
2019
Statut:
ppublish
Résumé
In this study, we describe the biological immune profiles and clinical dysimmune manifestations (infections, autoimmune diseases, and allergies) of patients with 22q11.2 deletion syndrome with the aim of determining risk factors for clinical events. This retrospective study concerned all the patients with 22q11 deletion syndrome attending the Montpellier University Hospital from January 1, 1992, to December 31, 2014 who had at least one immune investigation before the age of 18. We analyzed the clinical features, biological tests and the course of infections, autoimmunity, and allergy of 86 children. Among these 86 children, 48 (59%) had a low T lymphocyte level. Twenty-nine patients (34%) had a severe infection. The only risk factor for severe infection was the low level of CD4+ T-cells (OR: 3.3; 95% confidence interval (CI) [1.020-11.108]). Eleven patients (13%) developed an autoimmune disease; the only risk factor was an antecedent of severe infection (OR: 4.1; 95% CI [1.099-15.573]). Twenty-three patients (27%) had allergic episodes. A low level of CD8+ T-cells (OR: 3.2; 95% CI [1.07-9.409]) was significantly associated with allergy manifestations. Patients with 22q11 deletion syndrome have a high rate of dysimmune manifestations. We found statistic correlations among CD4+ T-cell count, infectious manifestations, and autoimmunity.
Identifiants
pubmed: 31471951
doi: 10.1002/ajmg.a.61336
doi:
Substances chimiques
Immunoglobulin Isotypes
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2207-2213Informations de copyright
© 2019 Wiley Periodicals, Inc.
Références
Arthrite Juvénile Idiopathique, PNDS de l'HAS. 2009. Retrieved from http://www.has-sante.fr/portail/upload/docs/application/pdf/2009-09/ald_31_pnds_arthrite_juvenile_web.pdf
Derfalvi, B., Maurer, K., McDonald McGinn, D., Zackai, E., Meng, W., T.Luning Prak, E., Sullivan, K. E. (2016). B cell development in chromosome 22q11.2 deletion syndrome. Clinical Immunology, 163, 1-9. https://doi.org/10.1016/j.clim.2015.12.004
Finocchi, A., Di Cesare, S., Romiti, M. L., Capponi, C., Rossi, P., Carsetti, R., Cancrini, C. (2006). Humoral immune responses and CD27+ B cells in children with DiGeorge syndrome (22q11.2 deletion syndrome). Pediatric Allergy and Immunology, 17(5), 382-388. https://doi.org/10.1111/j.1399-3038.2006.00409.x
Fischer, A., Provot, J., Jais, J. P., Alcais, A., Mahlaoui, N., & members of the CEREDIH French PID study group. (2017). Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies. The Journal of Allergy and Clinical Immunology, 140(5), 1388-1393. https://doi.org/10.1016/j.jaci.2016.12.978
Gennery, A. R. (2012). Immunological aspects of 22q11.2 deletion syndrome. Cellular and Molecular Life Sciences, 69(1), 17-27. https://doi.org/10.1007/s00018-011-0842-z
Hacıhamdioğlu, B., Hacıhamdioğlu, D., & Delil, K. (2015). 22q11 deletion syndrome: current perspective. The Application of Clinical Genetics, 8, 123-132. https://doi.org/10.2147/TACG.S82105
Hofstetter, A. M., Jakob, K., Klein, N. P., Dekker, C. L., Edwards, K. M., Halsey, N. A., … LaRussa, P. (2014). Live vaccine use and safety in DiGeorge syndrome. Pediatrics, 133(4), e946-e954. https://doi.org/10.1542/peds.2013-0831
Jawad, F. A., McDonald-McGinn, D. M., Zackai, E., Sullivan, K. E. (2001). Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). The Journal of Pediatrics, 139(5), 715-723. https://doi.org/10.1067/mpd.2001.118534
Kobrynski, L. J., & Sullivan, K. E. (2007). Velocardiofacial syndrome, DiGeorge syndrome: The chromosome 22q11.2 deletion syndromes. Lancet, 370(9596), 1443-1452. https://doi.org/10.1016/S0140-6736(07)61601-8
Morsheimer, M., Brown Whitehorn, T. F., Heimall, J., & Sullivan, K. E. (2017 Sep). The immune deficiency of chromosome 22q11.2 deletion syndrome. American Journal of Medical Genetics. Part A, 173(9), 2366-2372. https://doi.org/10.1002/ajmg.a.38319
Picard, C. (2007). How to diagnose a hereditary immunodeficiency? La Revue du Praticien, 57(15), 1671-1676. https://doi.org/10.1007/s10875-015-0201-1
Rancé, F., Deschildre, A., Bidat, E., Just, J., Couderc, L., Wanin, S., … Groupe de recherche sur les avancées en pneumopédiatrie (GRAPP). (2010). Secondary and tertiary prevention of allergic asthma in children. Revue Des Maladies Respiratoires, 27(10), 1221-1230. https://doi.org/10.1016/j.rmr.2010.06.024
Segal, J. B., & Powe, N. R. (2006). Prevalence of immune thrombocytopenia: Analyses of administrative data. Journal of Thrombosis and Haemostasis, 4(11), 2377-2383. https://doi.org/10.1111/j.1538-7836.2006.02147.x
Suksawat, Y., Sathienkijkanchai, A., Veskitkul, J., Jirapongsananuruk, O., Visitsunthorn, N., Vichyanond, P., & Pacharn, P. (2017). Resolution of primary immune defect in 22q112 deletion syndrome. Journal of Clinical Immunology, 37(4), 375-382. https://doi.org/10.1007/s10875-017-0394-6
Sullivan, K. E. (2004). The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Current Opinion in Allergy and Clinical Immunology, 4(6), 505-512. https://doi.org/10.1097/00130832-200412000-00006