Hyper-IgE and Carcinoma in CADINS Disease.
CADINS
CARD11 deficiency
HPV driven carcinoma
anal carcinoma
dupilumab
hyper-IgE-syndrome
mycosis fungoides
severe eczema
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2022
2022
Historique:
received:
18
02
2022
accepted:
07
04
2022
entrez:
2
6
2022
pubmed:
3
6
2022
medline:
7
6
2022
Statut:
epublish
Résumé
Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspected. The International Union of Immunological Societies classification lists variants in different genes responsible for so-called Hyper-IgE syndromes. Diagnosing an underlying IEI may influence treatment strategies. Clinical and diagnostic workup of family members are presented including a detailed immunological description and histology of the carcinoma. Functional testing of the novel variant in We report on an 18-year-old patient with a long-standing history of infections, accompanied by hypogammaglobulinemia, intermittent agranulocytosis, atopy, eosinophilia and colitis. The working diagnosis of common variable immunodeficiency was revised when a novel heterozygous The phenotypic spectrum associated with heterozygous
Sections du résumé
Background
Atopic dermatitis (AD) affects up to 25% of children and 10% of adults in Western countries. When severe or recurrent infections and exceedingly elevated serum IgE levels occur in AD patients, an inborn error of immunity (IEI) may be suspected. The International Union of Immunological Societies classification lists variants in different genes responsible for so-called Hyper-IgE syndromes. Diagnosing an underlying IEI may influence treatment strategies.
Methods
Clinical and diagnostic workup of family members are presented including a detailed immunological description and histology of the carcinoma. Functional testing of the novel variant in
Results
We report on an 18-year-old patient with a long-standing history of infections, accompanied by hypogammaglobulinemia, intermittent agranulocytosis, atopy, eosinophilia and colitis. The working diagnosis of common variable immunodeficiency was revised when a novel heterozygous
Conclusion
The phenotypic spectrum associated with heterozygous
Identifiants
pubmed: 35651609
doi: 10.3389/fimmu.2022.878989
pmc: PMC9149281
doi:
Substances chimiques
Immunoglobulin E
37341-29-0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
878989Informations de copyright
Copyright © 2022 Pietzsch, Körholz, Boschann, Sergon, Dorjbal, Yee, Gilly, Kämmerer, Paul, Kastl, Laass, Berner, Jacobsen, Roesler, Aust, Lee-Kirsch, Snow and Schuetz.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Int J Cancer. 2015 Jan 1;136(1):98-107
pubmed: 24817381
Nature. 2021 Feb;590(7846):E53
pubmed: 33536625
Curr Opin Immunol. 2021 Oct;72:277-285
pubmed: 34364035
Allergol Int. 2021 Oct;70(4):407-414
pubmed: 34419355
Nat Genet. 2017 Aug;49(8):1192-1201
pubmed: 28628108
Front Immunol. 2021 Aug 05;12:680334
pubmed: 34421895
Am J Hum Genet. 2020 Dec 3;107(6):1029-1043
pubmed: 33202260
J Allergy Clin Immunol. 2019 Apr;143(4):1482-1495
pubmed: 30170123
Clin Exp Dermatol. 2021 Oct;46(7):1334-1335
pubmed: 33864281
Science. 2008 Mar 21;319(5870):1676-9
pubmed: 18323416
Nat Genet. 2015 Nov;47(11):1304-15
pubmed: 26437031
J Allergy Clin Immunol. 2019 May;143(5):1661-1673
pubmed: 31060714
J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5
pubmed: 24589341
J Exp Med. 2012 Nov 19;209(12):2247-61
pubmed: 23129749
Front Immunol. 2018 Aug 30;9:1927
pubmed: 30214442
Sci Immunol. 2018 Jun 15;3(24):
pubmed: 29907691
Cancers (Basel). 2021 Dec 02;13(23):
pubmed: 34885191
N Engl J Med. 2009 Nov 19;361(21):2046-55
pubmed: 19776401
J Exp Med. 2016 Oct 17;213(11):2413-2435
pubmed: 27647349
Curr Opin Allergy Clin Immunol. 2017 Aug;17(4):309-315
pubmed: 28582322
J Clin Invest. 2020 Jan 2;130(1):507-522
pubmed: 31714901
J Infect Public Health. 2019 Jan - Feb;12(1):1-6
pubmed: 29980478
Am J Pathol. 2015 Sep;185(9):2354-63
pubmed: 26212909
Nucleic Acids Res. 2020 Jul 2;48(W1):W162-W169
pubmed: 32338743
J Clin Immunol. 2021 Apr;41(Suppl 1):1-135
pubmed: 33822308
Nat Genet. 2015 Dec;47(12):1426-34
pubmed: 26551670
Science. 2021 Nov 26;374(6571):1080-1086
pubmed: 34822298
J Allergy Clin Immunol. 2013 May;131(5):1376-83.e3
pubmed: 23561803
Cancers (Basel). 2021 Apr 16;13(8):
pubmed: 33923722