Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study
Author:
Funder
National Institute of Allergy and Infectious Diseases
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-020-00854-y.pdf
Reference17 articles.
1. Sullivan KE. Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunol Rev. 2019;287(1):186–201. https://doi.org/10.1111/imr.12701.
2. Morsheimer M, Brown Whitehorn TF, Heimall J, Sullivan KE. The immune deficiency of chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2017;173(9):2366–72. https://doi.org/10.1002/ajmg.a.38319.
3. Giardino G, Radwan N, Koletsi P, Morrogh DM, Adams S, Ip W, et al. Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center. Blood. 2019;133(24):2586–96. https://doi.org/10.1182/blood.2018885244.
4. Crowley B, Ruffner M, McDonald McGinn DM, Sullivan KE. Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome. Am J Med Genet A. 2018;176(10):2082–6. https://doi.org/10.1002/ajmg.a.38597.
5. Schatorje EJ, Gemen EF, Driessen GJ, Leuvenink J, van Hout RW, de Vries E. Paediatric reference values for the peripheral T cell compartment. Scand J Immunol. 2012;75(4):436–44. https://doi.org/10.1111/j.1365-3083.2012.02671.x.
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2. Ustekinumab for psoriasis and psoriatic arthritis in adolescents with 22q11.2 deletion syndrome;The Journal of Allergy and Clinical Immunology: In Practice;2023-12
3. Chromosome 22q11.2 Deletion Syndrome: A Comprehensive Review of Molecular Genetics in the Context of Multidisciplinary Clinical Approach;International Journal of Molecular Sciences;2023-05-05
4. Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management;Current Allergy and Asthma Reports;2023-03-10
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