Research & Literature

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome.

Kreins AY, Ciancanelli MJ, Okada S, et al.

The Journal of experimental medicine 2015; (212(10)):1641-62 doi:10.1084/jem.20140280.

Defining the functional binding sites of interleukin 12 receptor β1 and interleukin 23 receptor to Janus kinases.

Floss DM, Klöcker T, Schröder J, et al.

Molecular biology of the cell 2016; (27(14)):2301-16 doi:10.1091/mbc.E14-12-1645.

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Fuchs S, Kaiser-Labusch P, Bank J, et al.

European journal of immunology 2016; (46(11)):2639-2649 doi:10.1002/eji.201646519.

Impaired IFNγ-Signaling and Mycobacterial Clearance in IFNγR1-Deficient Human iPSC-Derived Macrophages.

Neehus AL, Lam J, Haake K, et al.

Stem cell reports 2018; (10(1)):7-16 doi:10.1016/j.stemcr.2017.11.011.

Compound heterozygous TYK2 mutations underlie primary immunodeficiency with T-cell lymphopenia.

Nemoto M, Hattori H, Maeda N, et al.

Scientific reports 2018; (8(1)):6956 doi:10.1038/s41598-018-25260-8.

The Child with Recurrent Mycobacterial Disease.

Reed B, Dolen WK

Current allergy and asthma reports 2018; (18(8)):44 doi:10.1007/s11882-018-0797-3.

Poliovirus excretion following vaccination with live poliovirus vaccine in patients with primary immunodeficiency disorders: clinicians' perspectives in the endgame plan for polio eradication.

Galal NM, Meshaal S, ElHawary R, et al.

BMC research notes 2018; (11(1)):717 doi:10.1186/s13104-018-3822-7.

TYK2 in Tumor Immunosurveillance.

Karjalainen A, Shoebridge S, Krunic M, et al.

Cancers 2020; (12(1)) doi:10.3390/cancers12010150.

Mendelian susceptibility to mycobacterial disease: recent discoveries.

Bustamante J

Human genetics 2020; (139(6-7)):993-1000 doi:10.1007/s00439-020-02120-y.

The monogenic basis of human tuberculosis.

Boisson-Dupuis S

Human genetics 2020; (139(6-7)):1001-1009 doi:10.1007/s00439-020-02126-6.

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

Wu P, Chen S, Wu B, et al.

Frontiers in pediatrics 2020; (8()):253 doi:10.3389/fped.2020.00253.

Discovery of Tyrosine Kinase 2 (TYK2) Inhibitor (PF-06826647) for the Treatment of Autoimmune Diseases.

Gerstenberger BS, Ambler C, Arnold EP, et al.

Journal of medicinal chemistry 2020; (63(22)):13561-13577 doi:10.1021/acs.jmedchem.0c00948.

Mycobacterium Intracellulare Infection Associated with TYK2 Deficiency: A Case Report and Review of the Literature.

Guo W, Feng X, Yang M, et al.

Infection and drug resistance 2020; (13()):4347-4353 doi:10.2147/IDR.S279438.

Spectrum of Inborn errors of immunity in a cohort of 90 patients presenting with complications to BCG vaccination in India.

Yadav RM, Dalvi A, Gupta M, et al.

Scandinavian journal of immunology 2021; (93(5)):e13010 doi:10.1111/sji.13010.

Mapping Out Autoimmunity Control in Primary Immune Regulatory Disorders.

Farmer JR, Uzel G

The journal of allergy and clinical immunology. In practice 2021; (9(2)):653-659 doi:10.1016/j.jaip.2020.12.024.

[Disseminated infection caused by the bacillus Calmette-Guérin vaccine and SARS-CoV-2 coinfection in a patient with IL-12 receptor β1 subunit deficiency].

Allen-Manzur JG, Espinosa-Padilla SE, Bustamante J, et al.

Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) 2020; (67(4)):401-407 doi:10.29262/ram.v67i4.798.

Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.

Le Voyer T, Sakata S, Tsumura M, et al.

Journal of immunology (Baltimore, Md. : 1950) 2021; (207(1)):133-152 doi:10.4049/jimmunol.2001451.

Novel mutations of TYK2 leading to divergent clinical phenotypes.

Lv G, Sun G, Wu P, et al.

Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2022; (33(1)):e13671 doi:10.1111/pai.13671.

Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia.

Zhang Q, Matuozzo D, Le Pen J, et al.

The Journal of experimental medicine 2022; (219(8)) doi:10.1084/jem.20220131.

Disseminated tuberculosis associated with deficient interleukin-23/tyrosine kinase 2 signalling.

Ojuawo O, Allen R, Hagan G, Piracha S

BMJ case reports 2022; (15(8)) doi:10.1136/bcr-2022-250479.

Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.

Ogishi M, Arias AA, Yang R, et al.

The Journal of experimental medicine 2022; (219(10)) doi:10.1084/jem.20220094.

Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria.

Daza-Cajigal V, Albuquerque AS, Young DF, et al.

Frontiers in immunology 2022; (13()):888427 doi:10.3389/fimmu.2022.888427.

Human inherited complete STAT2 deficiency underlies inflammatory viral diseases.

Bucciol G, Moens L, Ogishi M, et al.

The Journal of clinical investigation 2023; (133(12)).

Diagnosis of mixed infection and a primary immunodeficiency disease using next-generation sequencing: a case report.

Zhang X, Wang Y, Pen D, et al.

Frontiers in cellular and infection microbiology 2023; (13()):1179090 doi:10.3389/fcimb.2023.1179090.

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

Roussel L, Pham-Huy A, Yu AC, et al.

Journal of clinical immunology 2023; (43(8)):2011-2021 doi:10.1007/s10875-023-01580-x.

Adult-onset Mendelian Susceptibility to Mycobacterial Diseases: A case report and systematic literature review.

Yang Y, Xia L, Lu S

Heliyon 2023; (9(12)):e22632 doi:10.1016/j.heliyon.2023.e22632.

Successful Immune Reconstitution in a Patient with a TYK2 Deficiency after Allogeneic Stem Cell Transplantation from Unrelated Donors.

Gao Y, Wang Y, Zhou L, et al.

Journal of clinical immunology 2024; (44(7)):152 doi:10.1007/s10875-024-01753-2.

Nonclinical evaluations of deucravacitinib and Janus kinase inhibitors in homeostatic and inflammatory pathways.

Johnson B, Cheng L, Koenitzer J, et al.

Frontiers in immunology 2024; (15()):1437512 doi:10.3389/fimmu.2024.1437512.

A new heterozygous TYK2 gene mutation: Case report and review of the literature.

Xie L, Hu X, Wang H, et al.

International journal of immunopathology and pharmacology 2025; (39()):3946320251351138 doi:10.1177/03946320251351138.

TYK2 Deficiency Presenting as Refractory Disseminated BCG/Tuberculosis Infection in a Kazakh Child: A Case Report with Genetic Confirmation.

Sikhayeva N, Volodchenko S, Kovzel E, et al.

Genes 2025; (16(12)) doi:10.3390/genes16121445.

IDSA 2025 Guidelines on the Use of Vaccines for the Prevention of Seasonal COVID-19 Infections in Immunocompromised Patients.

Nellore A, Bajema K, Belden K, et al.

Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2026; (82(Suppl 3)):i111-i116 doi:10.1093/cid/ciag115.

Pulmonary Rehabilitation in Inborn Errors of Immunity with Bronchiectasis: A Narrative Review with Implications for High-Consanguinity Settings.

Alruwaili R, Albelasi A, Alqahtani MM

Journal of clinical medicine 2026; (15(20)) doi:10.3390/jcm15208131.