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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.

Labels
Neonatology Paediatrics General practitioner for children and adolescents
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