A TYK2 Gene Mutation c.2395G>A Leads to TYK2 Deficiency: A Case Report and Literature Review

Frontiers in Pediatrics
Peilin WuGe Lv

Abstract

Tyrosine kinase 2 (TYK2) deficiency was formerly defined in patients suffering from autosomal recessive hyperimmunoglobulin E syndrome (AR-HIES). In recent years, it was proposed that human TYK2 deficiency is probably not a common cause of the AR-HIES but a distinctive illness object. In the current work, a recessive TYK2 deficiency is reported in a patient suffering from BCG disease and recurrent respiratory infection. It was implied that this patient carried novel missense homozygous mutation (c.2395G>A, p. G799R) in the TYK2. Both the in vivo and in vitro experiments indicated the inhibition effects of the c.2395G>A homozygous mutation on the TYK2 gene and protein expression. By literature review, we summarized the clinical manifestations, gene mutations, and related cytokine responses of formerly reported patients possessing TYK2 deficiency. The core manifestation of these patients is infected by intracellular pathogens, such as mycobacteria and/or viruses. Therefore, the possibility of TYK2 deficiency should be considered when a patient has repeated intracellular bacteria (including tuberculosis bacillus infection), repeated viral infection or eczema.

References

Aug 11, 2001·Current Opinion in Immunology·C A Biron, L Brossay
May 25, 2007·Immunity·Cristina WoellnerBodo Grimbacher
Nov 9, 2007·Current Opinion in Allergy and Clinical Immunology·Yoshiyuki Minegishi, Hajime Karasuyama
May 31, 2011·Frontiers in Bioscience (Landmark Edition)·Birgit StroblMathias Mueller
Mar 10, 2012·The Journal of Pediatrics·Sara S KilicJean-Laurent Casanova
Aug 26, 2015·The Journal of Experimental Medicine·Alexandra Y KreinsStéphanie Boisson-Dupuis
Nov 5, 2016·European Journal of Immunology·Sebastian FuchsStephan Ehl
May 23, 2017·Journal of Immunology Research·Deann T SnyderMark A Jutila
Dec 12, 2017·Journal of Clinical Immunology·Aziz BousfihaKathleen E Sullivan
May 5, 2018·Scientific Reports·Michiko NemotoYasumasa Iwatani
Dec 24, 2018·Science Immunology·Rubén Martínez-BarricarteJean-Laurent Casanova
Dec 24, 2018·Science Immunology·Stéphanie Boisson-DupuisJean-Laurent Casanova

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Citations

Mar 16, 2021·The World Allergy Organization Journal·Riccardo CastagnoliUNKNOWN Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)
Apr 17, 2021·Mucosal Immunology·Fabienne Charbit-HenrionNadine Cerf-Bensussan
Sep 28, 2021·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Ge LvHongqiang Du

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Methods Mentioned

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