A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis

Minegishi Y, Saito M, Morio T, Watanabe K, Agematsu K, Tsuchiya S, Takada H, Hara T, Kawamura N, Ariga T, et al. Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 2006;25(5):745–55.

Article  CAS  PubMed  Google Scholar 

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, et al. Human TYK2 deficiency: mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med. 2015;212(10):1641–62.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ogishi M, Arias AA, Yang R, Han JE, Zhang P, Rinchai D, Halpern J, Mulwa J, Keating N, Chrabieh M, et al. Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency. J Exp Med. 2022;219(10):e20220094.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nemoto M, Hattori H, Maeda N, Akita N, Muramatsu H, Moritani S, Kawasaki T, Maejima M, Ode H, Hachiya A, et al. Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia. Sci Rep. 2018;8(1):6956.

Article  PubMed  PubMed Central  Google Scholar 

Vinh DC, Schwartz B, Hsu AP, Miranda DJ, Valdez PA, Fink D, Lau KP, Long-Priel D, Kuhns DB, Uzel G, et al. Interleukin-12 receptor beta1 deficiency predisposing to disseminated Coccidioidomycosis. Clin Infect Dis. 2011;52(4):e99–102.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gavino C, Cotter A, Lichtenstein D, Lejtenyi D, Fortin C, Legault C, Alirezaie N, Majewski J, Sheppard DC, Behr MA, et al. CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy. Clin Infect Dis. 2014;59(1):81–4.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Gavino C, Hamel N, Zeng JB, Legault C, Guiot MC, Chankowsky J, Lejtenyi D, Lemire M, Alarie I, Dufresne S, et al. Impaired RASGRF1/ERK-mediated GM-CSF response characterizes CARD9 deficiency in French-Canadians. J Allergy Clin Immunol. 2016;137(4):1178-1188.e7.

Article  CAS  PubMed  Google Scholar 

Gavino C, Landekic M, Zeng J, Wu N, Jung S, Zhong MC, Cohen-Blanchet A, Langelier M, Neyret O, Lejtenyi D, et al. Morpholino-based correction of hypomorphic ZAP70 mutation in an adult with combined immunodeficiency. J Allergy Clin Immunol. 2017;139(5):1688-1692 e10.

Article  PubMed  PubMed Central  Google Scholar 

Ghoreschi K, Laurence A, O’Shea JJ. Janus kinases in immune cell signaling. Immunol Rev. 2009;228(1):273–87.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Wöss K, Simonović N, Strobl B, Macho-Maschler S, Müller M. TYK2: an upstream kinase of STATs in cancer. Cancers (Basel). 2019;11(11):1728–46.

Article  PubMed  Google Scholar 

Ragimbeau J, Dondi E, Alcover A, Eid P, Uzé G, Pellegrini S. The tyrosine kinase Tyk2 controls IFNAR1 cell surface expression. Embo j. 2003;22(3):537–47.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Li Z, Rotival M, Patin E, Michel F, Pellegrini S. Two common disease-associated TYK2 variants impact exon splicing and TYK2 dosage. PLoS ONE. 2020;15(1):e0225289.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Levin D, Harari D, Schreiber G. Stochastic receptor expression determines cell fate upon interferon treatment. Mol Cell Biol. 2011;31(16):3252–66.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Schreiber G. The molecular basis for differential type I interferon signaling. J Biol Chem. 2017;292(18):7285–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Azimov R, Abuladze N, Sassani P, Newman D, Kao L, Liu W, Orozco N, Ruchala P, Pushkin A, Kurtz I. G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis. Am J Physiol Renal Physiol. 2008;295(3):F633–41.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Frew J, Baradaran-Heravi A, Balgi AD, Wu X, Yan TD, Arns S, Shidmoossavee FS, Tan J, Jaquith JB, Jansen-West KR, et al. Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency. Mol Neurodegener. 2020;15(1):21.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Keeling KM, Xue X, Gunn G, Bedwell DM. Therapeutics based on stop codon readthrough. Annu Rev Genomics Hum Genet. 2014;15:371–94.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rubenstein RC, Zeitlin PL. A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med. 1998;157(2):484–90.

Article  CAS  PubMed  Google Scholar 

Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation. J Thromb Haemost. 2018;16(10):2035–43.

Article  CAS  PubMed  Google Scholar 

Pomozi V, Brampton C, Szeri F, Dedinszki D, Kozák E, van de Wetering K, Hopkins H, Martin L, Váradi A, Le Saux O. Functional rescue of ABCC6 deficiency by 4-phenylbutyrate therapy reduces dystrophic calcification in Abcc6-/- mice. J Invest Dermatol. 2017;137(3):595–602.

Article  CAS  PubMed  Google Scholar 

Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, et al. Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. J Exp Med. 2022;219(8):e20220131.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Drebot MA. Emerging mosquito-borne bunyaviruses in Canada. Can Commun Dis Rep. 2015;41(6):117–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pastula DM, Hoang Johnson DK, White JL, Dupuis AP 2nd, Fischer M, Staples JE. Jamestown Canyon virus disease in the United States-2000-2013. Am J Trop Med Hyg. 2015;93(2):384–9.

Article  PubMed  PubMed Central  Google Scholar 

Matkovic E, Hoang Johnson DK, Staples JE, Mora-Pinzon MC, Elbadawi LI, Osborn RA, Warshauer DM, Wegner MV, Davis JP. Enhanced arboviral surveillance to increase detection of Jamestown Canyon virus infections, Wisconsin, 2011–2016. Am J Trop Med Hyg. 2019;100(2):445–51.

Article  PubMed  Google Scholar 

Fuchs S, Kaiser-Labusch P, Bank J, Ammann S, Kolb-Kokocinski A, Edelbusch C, Omran H, Ehl S. Tyrosine kinase 2 is not limiting human antiviral type III interferon responses. Eur J Immunol. 2016;46(11):2639–49.

Article  CAS  PubMed  Google Scholar 

Meyts I, Casanova JL. Viral infections in humans and mice with genetic deficiencies of the type I IFN response pathway. Eur J Immunol. 2021;51(5):1039–61.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Stertz S, Hale BG. Interferon system deficiencies exacerbating severe pandemic virus infections. Trends Microbiol. 2021;29(11):973–82.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Geiger TR, Martin JM. The Epstein-Barr virus-encoded LMP-1 oncoprotein negatively affects Tyk2 phosphorylation and interferon signaling in human B cells. J Virol. 2006;80(23):11638–50.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Philippot Q, Ogishi M, Bohlen J, Puchan J, Arias AA, Nguyen T, Martin-Fernandez M, Conil C, Rinchai D, Momenilandi M, et al. Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria. Sci Immunol. 2023;8(80):eabq5204.

Article  CAS  PubMed  PubMed Central  Google Scholar 

van de Vosse E, Haverkamp MH, Ramirez-Alejo N, Martinez-Gallo M, Blancas-Galicia L, Metin A, Garty BZ, Sun-Tan Ç, Broides A, de Paus RA, et al. IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. Hum Mutat. 2013;34(10):1329–39.

Article  PubMed  PubMed Central  Google Scholar 

Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, et al. Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds. Medicine (Baltimore). 2013;92(2):109–22.

Article  CAS  PubMed  Google Scholar 

Bustamante J, Boisson-Dupuis S, Abel L, Casanova JL. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin Immunol. 2014;26(6):454–70.

Article  CAS  PubMed  PubMed Central 

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