Hyper-IgE in the allergy clinic-when is it primary
immunodeficiency?

J 2018

Hyper-IgE in the allergy clinic-when is it primary immunodeficiency?

PONSFORD, Mark J., Adam KLOCPERK, Federica PULVIRENTI, Virgil A. S. H. DALM, Tomas MILOTA et. al.

Basic information

Original name

Hyper-IgE in the allergy clinic-when is it primary immunodeficiency?

Authors

PONSFORD, Mark J. (826 United Kingdom of Great Britain and Northern Ireland, guarantor), Adam KLOCPERK (203 Czech Republic), Federica PULVIRENTI (380 Italy), Virgil A. S. H. DALM (528 Netherlands), Tomas MILOTA (203 Czech Republic), Francesco CINETTO (380 Italy), Zita CHOVANCOVÁ (203 Czech Republic, belonging to the institution), Manuel J. RIAL (724 Spain), Anna SEDIVA (203 Czech Republic), Jiří LITZMAN (203 Czech Republic, belonging to the institution), Carlo AGOSTINI (380 Italy), Martin van HAGEN (528 Netherlands), Isabella QUINTI (380 Italy) and Stephen JOLLES (826 United Kingdom of Great Britain and Northern Ireland)

Edition

Allergy, Hoboken, Wiley, 2018, 0105-4538

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30225 Allergy

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 6.771

RIV identification code

RIV/00216224:14110/18:00104759

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1111/all.13578

UT WoS

000450344300003

Keywords in English

hyper-IgE syndrome

Abstract

V originále

The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototypic Job's syndrome (autosomal dominant STAT3-loss of function) and autosomal recessive PGM3 and SPINK5 syndromes. Early diagnosis of PID can direct life-saving or transformational interventions; however, it remains challenging owing to the rarity of these conditions. This can result in diagnostic delay and worsen prognosis. Within increasing access to "clinical-exome" testing, clinicians need to be aware of the implication and rationale for genetic testing, including the benefits and limitations of current therapies. Extreme elevation of serum IgE has been associated with a growing number of PID syndromes including the novel CARD11 and ZNF341 deficiencies. Variable elevations in IgE are associated with defects in innate, humoral, cellular and combined immunodeficiency syndromes. Barrier compromise can closely phenocopy these conditions. The aim of this article was to update readers on recent developments at this important interface between allergy and immunodeficiency, highlighting key clinical scenarios which should draw attention to possible immunodeficiency associated with extreme elevation of IgE, and outline initial laboratory assessment and management.

Citovat

PONSFORD, Mark J., Adam KLOCPERK, Federica PULVIRENTI, Virgil A. S. H. DALM, Tomas MILOTA, Francesco CINETTO, Zita CHOVANCOVÁ, Manuel J. RIAL, Anna SEDIVA, Jiří LITZMAN, Carlo AGOSTINI, Martin van HAGEN, Isabella QUINTI and Stephen JOLLES. Hyper-IgE in the allergy clinic-when is it primary immunodeficiency? Allergy. Hoboken: Wiley, 2018, vol. 73, No 11, p. 2122-2136. ISSN 0105-4538. Available from: https://dx.doi.org/10.1111/all.13578.

@article{1474678,
   author = {Ponsford, Mark J. and Klocperk, Adam and Pulvirenti, Federica and Dalm, Virgil A. S. H. and Milota, Tomas and Cinetto, Francesco and Chovancová, Zita and Rial, Manuel J. and Sediva, Anna and Litzman, Jiří and Agostini, Carlo and Hagen, Martin van and Quinti, Isabella and Jolles, Stephen},
   article_location = {Hoboken},
   article_number = {11},
   doi = {http://dx.doi.org/10.1111/all.13578},
   keywords = {hyper-IgE syndrome},
   language = {eng},
   issn = {0105-4538},
   journal = {Allergy},
   title = {Hyper-IgE in the allergy clinic-when is it primary immunodeficiency?},
   volume = {73},
   year = {2018}
}

TY  - JOUR
ID  - 1474678
AU  - Ponsford, Mark J. - Klocperk, Adam - Pulvirenti, Federica - Dalm, Virgil A. S. H. - Milota, Tomas - Cinetto, Francesco - Chovancová, Zita - Rial, Manuel J. - Sediva, Anna - Litzman, Jiří - Agostini, Carlo - Hagen, Martin van - Quinti, Isabella - Jolles, Stephen
PY  - 2018
TI  - Hyper-IgE in the allergy clinic-when is it primary immunodeficiency?
JF  - Allergy
VL  - 73
IS  - 11
SP  - 2122-2136
EP  - 2122-2136
PB  - Wiley
SN  - 01054538
KW  - hyper-IgE syndrome
N2  - The 2017 International Union of Immunological Societies (IUIS) classification recognizes 3 hyper-IgE syndromes (HIES), including the prototypic Job's syndrome (autosomal dominant STAT3-loss of function) and autosomal recessive PGM3 and SPINK5 syndromes. Early diagnosis of PID can direct life-saving or transformational interventions; however, it remains challenging owing to the rarity of these conditions. This can result in diagnostic delay and worsen prognosis. Within increasing access to "clinical-exome" testing, clinicians need to be aware of the implication and rationale for genetic testing, including the benefits and limitations of current therapies. Extreme elevation of serum IgE has been associated with a growing number of PID syndromes including the novel CARD11 and ZNF341 deficiencies. Variable elevations in IgE are associated with defects in innate, humoral, cellular and combined immunodeficiency syndromes. Barrier compromise can closely phenocopy these conditions. The aim of this article was to update readers on recent developments at this important interface between allergy and immunodeficiency, highlighting key clinical scenarios which should draw attention to possible immunodeficiency associated with extreme elevation of IgE, and outline initial laboratory assessment and management.
ER  -

PONSFORD, Mark J., Adam KLOCPERK, Federica PULVIRENTI, Virgil A. S. H. DALM, Tomas MILOTA, Francesco CINETTO, Zita CHOVANCOVÁ, Manuel J. RIAL, Anna SEDIVA, Jiří LITZMAN, Carlo AGOSTINI, Martin van HAGEN, Isabella QUINTI and Stephen JOLLES. Hyper-IgE in the allergy clinic-when is it primary immunodeficiency? \textit{Allergy}. Hoboken: Wiley, 2018, vol.~73, No~11, p.~2122-2136. ISSN~0105-4538. Available from: https://dx.doi.org/10.1111/all.13578.

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