#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

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
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#