Publications

Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells

Malle L, Patel RS, Martin-Fernandez M, Stewart OJ, Philippot Q, Buta S, Richardson A, Barcessat V, Taft J, Bastard P, Samuels J, Mircher C, Rebillat AS, Maillebouis L, Vilaire-Meunier M, Tuballes K, Rosenberg BR, Trachtman R, Casanova JL, Notarangelo LD, Gnjatic S, Bush D, Bogunovic D. Autoimmunity in Down’s syndrome via cytokines, CD4 T cells and CD11c+ B cells. Nature. 2023 Mar;615(7951):305-314. doi: 10.1038/s41586-023-05736-y. Epub 2023 Feb 22. PMID: 36813963; PMCID: PMC9945839.

Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome

Malle L, Martin-Fernandez M, Buta S, Richardson A, Bush D, Bogunovic D. Excessive negative regulation of type I interferon disrupts viral control in individuals with Down syndrome. Immunity. 2022 Nov 8;55(11):2074-2084.e5. doi: 10.1016/j.immuni.2022.09.007. Epub 2022 Oct 14. PMID: 36243008; PMCID: PMC9649881.

A partial form of inherited human USP18 deficiency underlies infection and inflammation

Martin-Fernandez M, Buta S, Le Voyer T, Li Z, Dynesen LT, Vuillier F, Franklin L, Ailal F, Muglia Amancio A, Malle L, Gruber C, Benhsaien I, Altman J, Taft J, Deswarte C, Roynard M, Nieto-Patlan A, Moriya K, Rosain J, Boddaert N, Bousfiha A, Crow YJ, Jankovic D, Sher A, Casanova JL, Pellegrini S, Bustamante J, Bogunovic D. A partial form of inherited human USP18 deficiency underlies infection and inflammation. J Exp Med. 2022 Apr 4;219(4):e20211273. doi: 10.1084/jem.20211273. Epub 2022 Mar 8. PMID: 35258551; PMCID: PMC8908790.

Editorial overview: Four dimensions of innate immunity

Bogunovic D, Chen ZJ. Editorial overview: Four dimensions of innate immunity. Curr Opin Immunol. 2022 Apr;75:102174. doi: 10.1016/j.coi.2022.102174. Epub 2022 Apr 8. PMID: 35405492.

ISG15 deficiency restricts HIV-1 infection

Jurczyszak D, Manganaro L, Buta S, Gruber C, Martin-Fernandez M, Taft J, Patel RS, Cipolla M, Alshammary H, Mulder LCF, Sachidanandam R, Bogunovic D, Simon V. ISG15 deficiency restricts HIV-1 infection. PLoS Pathog. 2022 Mar 25;18(3):e1010405. doi: 10.1371/journal.ppat.1010405. PMID: 35333911; PMCID: PMC8986114.

Down syndrome and type I interferon: not so simple

Malle L, Bogunovic D. Down syndrome and type I interferon: not so simple. Curr Opin Immunol. 2021 Oct;72:196-205. doi: 10.1016/j.coi.2021.06.006. Epub 2021 Jun 23. PMID: 34174697; PMCID: PMC8578175.

Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome

Malle L, Bastard P, Martin-Nalda A, Carpenter T, Bush D, Patel R, Colobran R, Soler-Palacin P, Casanova JL, Gans M, Rivière JG, Bogunovic D. Atypical Inflammatory Syndrome Triggered by SARS-CoV-2 in Infants with Down Syndrome. J Clin Immunol. 2021 Oct;41(7):1457-1462. doi: 10.1007/s10875-021-01078-4. Epub 2021 Jun 5. PMID: 34089457; PMCID: PMC8178650.

Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death

Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. PMID: 34363755; PMCID: PMC8380741.

Children and SARS-CoV-2

Bogunovic D, Merad M. Children and SARS-CoV-2. Cell Host Microbe. 2021 Jul 14;29(7):1040-1042. doi: 10.1016/j.chom.2021.06.015. PMID: 34265242; PMCID: PMC8279573.

Malle L, Gao C, Hur C, Truong HQ, Bouvier NM, Percha B, Kong XF, Bogunovic D. Individuals with Down syndrome hospitalized with COVID-19 have more severe disease. Genet Med. 2021 Mar;23(3):576-580. doi: 10.1038/s41436-020-01004-w. Epub 2020 Oct 16. PMID: 33060835; PMCID: PMC7936948.

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C)

Gruber CN, Patel RS, Trachtman R, Lepow L, Amanat F, Krammer F, Wilson KM, Onel K, Geanon D, Tuballes K, Patel M, Mouskas K, O’Donnell T, Merritt E, Simons NW, Barcessat V, Del Valle DM, Udondem S, Kang G, Gangadharan S, Ofori-Amanfo G, Laserson U, Rahman A, Kim-Schulze S, Charney AW, Gnjatic S, Gelb BD, Merad M, Bogunovic D. Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C). Cell. 2020 Nov 12;183(4):982-995.e14. doi: 10.1016/j.cell.2020.09.034. Epub 2020 Sep 14. PMID: 32991843; PMCID: PMC7489877.

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

Gruber CN, Calis JJA, Buta S, Evrony G, Martin JC, Uhl SA, Caron R, Jarchin L, Dunkin D, Phelps R, Webb BD, Saland JM, Merad M, Orange JS, Mace EM, Rosenberg BR, Gelb BD, Bogunovic D. Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function. Immunity. 2020 Sep 15;53(3):672-684.e11. doi: 10.1016/j.immuni.2020.07.006. Epub 2020 Aug 3. PMID: 32750333; PMCID: PMC7398039.

Type I IFN is siloed in endosomes

Altman JB, Taft J, Wedeking T, Gruber CN, Holtmannspötter M, Piehler J, Bogunovic D. Type I IFN is siloed in endosomes. Proc Natl Acad Sci U S A. 2020 Jul 28;117(30):17510-17512. doi: 10.1073/pnas.1921324117. Epub 2020 Jul 14. PMID: 32665439; PMCID: PMC7395562.

Bourgeoning Scientific Research in Down Syndrome

Bogunovic D. Bourgeoning Scientific Research in Down Syndrome. J Clin Immunol. 2020 Aug;40(6):789-790. doi: 10.1007/s10875-020-00837-z. Epub 2020 Jul 25. PMID: 32712750; PMCID: PMC7382559.

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

Martin-Fernandez M, Bravo García-Morato M, Gruber C, Murias Loza S, Malik MNH, Alsohime F, Alakeel A, Valdez R, Buta S, Buda G, Marti MA, Larralde M, Boisson B, Feito Rodriguez M, Qiu X, Chrabieh M, Al Ayed M, Al Muhsen S, Desai JV, Ferre EMN, Rosenzweig SD, Amador-Borrero B, Bravo-Gallego LY, Olmer R, Merkert S, Bret M, Sood AK, Al-Rabiaah A, Temsah MH, Halwani R, Hernandez M, Pessler F, Casanova JL, Bustamante J, Lionakis MS, Bogunovic D. Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions. Cell Rep. 2020 May 12;31(6):107633. doi: 10.1016/j.celrep.2020.107633. PMID: 32402279; PMCID: PMC7331931.

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, Rosain J, Buta S, Bousfiha A, Casanova JL, Bustamante J, Bogunovic D. Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy. J Exp Med. 2020 May 4;217(5):e20192319. doi: 10.1084/jem.20192319. PMID: 32092142; PMCID: PMC7201920.

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

Gruber C, Bogunovic D. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet. 2020 Jun;139(6-7):745-757. doi: 10.1007/s00439-020-02131-9. Epub 2020 Feb 17. PMID: 32067110; PMCID: PMC7275875.

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

Alsohime F, Martin-Fernandez M, Temsah MH, Alabdulhafid M, Le Voyer T, Alghamdi M, Qiu X, Alotaibi N, Alkahtani A, Buta S, Jouanguy E, Al-Eyadhy A, Gruber C, Hasan GM, Bashiri FA, Halwani R, Hassan HH, Al-Muhsen S, Alkhamis N, Alsum Z, Casanova JL, Bustamante J, Bogunovic D, Alangari AA. JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency. N Engl J Med. 2020 Jan 16;382(3):256-265. doi: 10.1056/NEJMoa1905633. PMID: 31940699; PMCID: PMC7155173.

Developing Broad-Spectrum Antivirals Using Porcine and Rhesus Macaque Models

Qiu X, Taft J, Bogunovic D. Developing Broad-Spectrum Antivirals Using Porcine and Rhesus Macaque Models. J Infect Dis. 2020 Mar 2;221(6):890-894. doi: 10.1093/infdis/jiz549. PMID: 31637432; PMCID: PMC7050986.

The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics

Taft J, Bogunovic D. The Goldilocks Zone of Type I IFNs: Lessons from Human Genetics. J Immunol. 2018 Dec 15;201(12):3479-3485. doi: 10.4049/jimmunol.1800764. Erratum in: J Immunol. 2019 Apr 15;202(8):2511. PMID: 30530500.

ISG15: In Sickness and in Health

Hermann M, Bogunovic D. ISG15: In Sickness and in Health. Trends Immunol. 2017 Feb;38(2):79-93. doi: 10.1016/j.it.2016.11.001. Epub 2016 Nov 22. PMID: 27887993.

Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM. Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. PMID: 27325888; PMCID: PMC4925017.
Bogunovic D. Type I Interferons in Newborns-Neurotoxicity versus Antiviral Defense. mBio. 2016 May 17;7(3):e00639-16. doi: 10.1128/mBio.00639-16. PMID: 27190218; PMCID: PMC4959667.

ISG15 deficiency and increased viral resistance in humans but not mice

Speer SD, Li Z, Buta S, Payelle-Brogard B, Qian L, Vigant F, Rubino E, Gardner TJ, Wedeking T, Hermann M, Duehr J, Sanal O, Tezcan I, Mansouri N, Tabarsi P, Mansouri D, Francois-Newton V, Daussy CF, Rodriguez MR, Lenschow DJ, Freiberg AN, Tortorella D, Piehler J, Lee B, García-Sastre A, Pellegrini S, Bogunovic D. ISG15 deficiency and increased viral resistance in humans but not mice. Nat Commun. 2016 May 19;7:11496. doi: 10.1038/ncomms11496. PMID: 27193971; PMCID: PMC4873964.
Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015 Jan 1;517(7532):89-93. doi: 10.1038/nature13801. Epub 2014 Oct 12. PMID: 25307056; PMCID: PMC4303590.
Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D, Salem S, Radovanovic I, Grant AV, Adimi P, Mansouri N, Okada S, Bryant VL, Kong XF, Kreins A, Velez MM, Boisson B, Khalilzadeh S, Ozcelik U, Darazam IA, Schoggins JW, Rice CM, Al-Muhsen S, Behr M, Vogt G, Puel A, Bustamante J, Gros P, Huibregtse JM, Abel L, Boisson-Dupuis S, Casanova JL. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science. 2012 Sep 28;337(6102):1684-8. doi: 10.1126/science.1224026. Epub 2012 Aug 2. PMID: 22859821; PMCID: PMC3507439.

TLR4 engagement during TLR3-induced proinflammatory signaling in dendritic cells promotes IL-10-mediated suppression of antitumor immunity

Bogunovic D, Manches O, Godefroy E, Yewdall A, Gallois A, Salazar AM, Marie I, Levy DE, Bhardwaj N. TLR4 engagement during TLR3-induced proinflammatory signaling in dendritic cells promotes IL-10-mediated suppression of antitumor immunity. Cancer Res. 2011 Aug 15;71(16):5467-76. doi: 10.1158/0008-5472.CAN-10-3988. Epub 2011 Jul 5. PMID: 21730023; PMCID: PMC3156386.

Immune profile and mitotic index of metastatic melanoma lesions enhance clinical staging in predicting patient survival

Bogunovic D, O’Neill DW, Belitskaya-Levy I, Vacic V, Yu YL, Adams S, Darvishian F, Berman R, Shapiro R, Pavlick AC, Lonardi S, Zavadil J, Osman I, Bhardwaj N. Immune profile and mitotic index of metastatic melanoma lesions enhance clinical staging in predicting patient survival. Proc Natl Acad Sci U S A. 2009 Dec 1;106(48):20429-34. doi: 10.1073/pnas.0905139106. Epub 2009 Nov 13. PMID: 19915147; PMCID: PMC2787158.

ISG15: leading a double life as a secreted molecule

Bogunovic D, Boisson-Dupuis S, Casanova JL. ISG15: leading a double life as a secreted molecule. Exp Mol Med. 2013 Apr 12;45(4):e18. doi: 10.1038/emm.2013.36. PMID: 23579383; PMCID: PMC3641400.

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

Kong XF, Ciancanelli M, Al-Hajjar S, Alsina L, Zumwalt T, Bustamante J, Feinberg J, Audry M, Prando C, Bryant V, Kreins A, Bogunovic D, Halwani R, Zhang XX, Abel L, Chaussabel D, Al-Muhsen S, Casanova JL, Boisson-Dupuis S. A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood. 2010 Dec 23;116(26):5895-906. doi: 10.1182/blood-2010-04-280586. Epub 2010 Sep 14. PMID: 20841510; PMCID: PMC3031383.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

Kong XF, Vogt G, Itan Y, Macura-Biegun A, Szaflarska A, Kowalczyk D, Chapgier A, Abhyankar A, Furthner D, Djambas Khayat C, Okada S, Bryant VL, Bogunovic D, Kreins A, Moncada-Vélez M, Migaud M, Al-Ajaji S, Al-Muhsen S, Holland SM, Abel L, Picard C, Chaussabel D, Bustamante J, Casanova JL, Boisson-Dupuis S. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Hum Mol Genet. 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012 Nov 16. PMID: 23161749; PMCID: PMC3554203.