Combined immunodeficiencies with associated or syndromic features
Authors:
A. Klocperk 1; M. Bloomfield 1,2; A. Šedivá 1
Authors‘ workplace:
Ústav imunologie 2. LF UK a FN Motol, Praha
1; Pediatrická klinika 1. LF UK a Fakultní Thomayerovy nemocnice, Praha
2
Published in:
Čes-slov Pediat 2021; 76 (4): 194-201.
Category:
Sources
1. Tangye SG, Al-Herz W, Bousfiha A, et al. Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol 2020; 40: 24–64. doi: 10.1007/s10875-019-00737-x.
2. van Zelm MC, Szczepanski T, van der Burg M, et al. Replication history of B lymphocytes reveals homeostatic proliferation and extensive antigen-induced B cell expansion. J Exp Med 2007 Mar 19; 204 (3): 645–655.
3. Markert ML, Devlin BH, Alexieff MJ, et al. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants. Blood 2007; 109: 4539–4547.
4. Davies EG, Cheung M, Gilmour K, et al. Thymus transplantation for complete DiGeorge syndrome: European experience. J Allergy Clin Immunol 2017; 140: 1660–1670. doi: 10.1016/j.jaci.2017.03.020.
5. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet 1997; 34: 798–804.
6. Sullivan KE. Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome. Immunol Rev 2019; 287 (1): 186–201.
7. King JR, Hammarström L. Newborn screening for primary immunodeficiency diseases: History, current and future practice. J Clin Immunol 2018 Jan; 38 (1): 56–66.
8. Froňková E, Klocperk A, Svaton M, et al. The TREC/KREC assay for the diagnosis and monitoring of patients with DiGeorge syndrome. PLoS One 2014 Jan; 9 (12): 1–13.
9. Šedivá A, Zachová R, Klocperk A, et al. Závažné primární imunodeficience a možnosti jejich časné diagnostiky, uvedení testu TREC/KREC. Čes-slov Pediat 2019; 74 (3): 182–187.
10. Ponsford MJ, Rae W, Klocperk A. What’s new in HIES? Recent insights from the interface of primary immune deficiency and atopy. Curr Opin Allergy Clin Immunol 2018; 18: 445–452.
11. Ponsford MJ, Klocperk A, Pulvirenti F, et al. Hyper-IgE in the allergy clinic - when is it primary immunodeficiency? Allergy 2018 Nov 25; 73 (11): 2122–2136.
12. Grimbacher B, Holland SM, Gallin JI, et al. Hyper-IgE syndrome with recurrent infections – an autosomal dominant multisystem disorder. N Engl J Med 1999; 340 (9): 692–702.
13. Plzáková Z, Bloomfield M, Polášková S, et al. An eosinophilic papulopustular rash in a baby. Pediatr Dermatol 2020; 37: 32–34. doi: 10.1111/pde.14164.
14. Klocperk A, Šedivá A. První transplantace thymu v České republice jako nová terapeutická možnost pro pacienty s kompletním syndromem DiGeorge. Alergie 2019; 4: 200–205.
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2021 Issue 4
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