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.

Základní údaje

Originální název

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

Autoři

PONSFORD, Mark J. (826 Velká Británie a Severní Irsko, garant), Adam KLOCPERK (203 Česká republika), Federica PULVIRENTI (380 Itálie), Virgil A. S. H. DALM (528 Nizozemské království), Tomas MILOTA (203 Česká republika), Francesco CINETTO (380 Itálie), Zita CHOVANCOVÁ (203 Česká republika, domácí), Manuel J. RIAL (724 Španělsko), Anna SEDIVA (203 Česká republika), Jiří LITZMAN (203 Česká republika, domácí), Carlo AGOSTINI (380 Itálie), Martin van HAGEN (528 Nizozemské království), Isabella QUINTI (380 Itálie) a Stephen JOLLES (826 Velká Británie a Severní Irsko)

Vydání

Allergy, Hoboken, Wiley, 2018, 0105-4538

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30225 Allergy

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 6.771

Kód RIV

RIV/00216224:14110/18:00104759

Organizační jednotka

Lékařská fakulta

DOI

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

UT WoS

000450344300003

Klíčová slova anglicky

hyper-IgE syndrome

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 10. 2. 2019 13:35, Soňa Böhmová

Anotace

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 a Stephen JOLLES. Hyper-IgE in the allergy clinic-when is it primary immunodeficiency? Allergy. Hoboken: Wiley, 2018, roč. 73, č. 11, s. 2122-2136. ISSN 0105-4538. Dostupné z: 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 a Stephen JOLLES. Hyper-IgE in the allergy clinic-when is it primary immunodeficiency? \textit{Allergy}. Hoboken: Wiley, 2018, roč.~73, č.~11, s.~2122-2136. ISSN~0105-4538. Dostupné z: https://dx.doi.org/10.1111/all.13578.

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