Publications

Individuals with Down syndrome hospitalized with COVID-19 have more severe disease Genet Med. 2020. PMID: 33060835.Louise Malle, Cynthia Gao, Chin Hur, Han Q Truong, Nicole M Bouvier, Bethany Percha, Xiao-Fei Kong, Dusan Bogunovic

Mapping Systemic Inflammation and Antibody Responses in Multisystem Inflammatory Syndrome in Children (MIS-C).Cell. 2020. PMID: 32991843 Free PMC article. Conor N Gruber, Roosheel S Patel, Rebecca Trachtman, Lauren Lepow, Fatima Amanat, Florian Krammer, Karen M Wilson, Kenan Onel, Daniel Geanon, Kevin Tuballes, Manishkumar Patel, Konstantinos Mouskas, Timothy O’Donnell, Elliot Merritt, Nicole W Simons, Vanessa Barcessat, Diane M Del Valle, Samantha Udondem, Gurpawan Kang, Sandeep Gangadharan, George Ofori-Amanfo, Uri Laserson, Adeeb Rahman, Seunghee Kim-Schulze, Alexander W Charney, Sacha Gnjatic, Bruce D Gelb, Miriam Merad, Dusan Bogunovic

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function.Immunity. 2020. PMID: 32750333 Free PMC article. Conor N Gruber, Jorg J A Calis, Sofija Buta, Gilad Evrony, Jerome C Martin, Skyler A Uhl, Rachel Caron, Lauren Jarchin, David Dunkin, Robert Phelps, Bryn D Webb, Jeffrey M Saland, Miriam Merad, Jordan S Orange, Emily M Mace, Brad R Rosenberg, Bruce D Gelb, Dusan Bogunovic

Type I IFN is siloed in endosomes. Proc Natl Acad Sci U S A. 2020. PMID: 32665439Jennie B Altman, Justin Taft, Tim Wedeking, Conor N Gruber, Michael Holtmannspötter, Jacob Piehler, Dusan Bogunovic

Bourgeoning Scientific Research in Down Syndrome. Bogunovic D. J Clin Immunol. 2020. PMID: 32712750

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions. Cell reports.2020 May 12; 31(6):107633. doi: 10.1016/j.celrep.2020.107633.  PMID:32402279;  Marta Martin-Fernandez,
Maria Bravo Garcia-Morato, Conor Gruber, …, Jacinta Bustamante, Michail S. Lionakis, Dusan Bogunovic

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). pii: e20192319. doi: 10.1084/jem.20192319. PMID: 32092142; 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.

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet. Hum Genet. 2020 Feb 17. doi: 10.1007/s00439-020-02131-9. [Epub ahead of print] Review. PMID: 32067110; Gruber C, Bogunovic D.

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; 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.

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; Qiu X, 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. Review. Erratum in: J Immunol. 2019 Apr 15;202(8):2511. PMID:30530500; Taft J, Bogunovic D.

ISG15: In Sickness and in Health.Trends Immunol. February 2017. pii: S1471-4906(16)30181-8. doi: 10.1016/j.it.2016.11.001. [Epub ahead of print] Review. PMID: 27887993 Hermann M, Bogunovic D.

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. The Journal of Experimental Medicine. 2016 Jun 27;213(7):1163-74. doi: 10.1084/jem.20151529. Epub 2016 Jun 20. 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.
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.
Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature 517, 89–93 (01 January 2015). 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.
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science (New York, N.Y.) 2012 Sep; 337(6102). 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.

TLR4 engagement during TLR3-induced proinflammatory signaling in dendritic cells promotes IL-10-mediated suppression of antitumor immunity. Cancer research 2011 Aug; 71(16). Bogunovic D, Manches O, Godefroy E, Yewdall A, Gallois A, Salazar AM, Marie I, Levy DE, Bhardwaj N.

Immune profile and mitotic index of metastatic melanoma lesions enhance clinical staging in predicting patient survival. Proceedings of the National Academy of Sciences of the United States of America 2009 Dec; 106(48). 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.

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nature immunology 2012 Dec; 13(12). Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C.

ISG15: leading a double life as a secreted molecule [review]. Experimental & molecular medicine 2013; 45. Bogunovic D, Boisson-Dupuis S, Casanova JL.

Type 2 Bias of T cells expanded from the blood of melanoma patients switched to type 1 by IL-12p70 mRNA-transfected dendritic cells. Cancer research 2008 Nov; 68(22). Minkis K, Kavanagh DG, Alter G, Bogunovic D, O’Neill D, Adams S, Pavlick A, Walker BD, Brockman MA, Gandhi RT, Bhardwaj N.

A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 2010 Dec; 116(26). 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.

LXR promotes the maximal egress of monocyte-derived cells from mouse aortic plaques during atherosclerosis regression. The Journal of clinical investigation 2010 Dec; 120(12). Feig JE, Pineda-Torra I, Sanson M, Bradley MN, Vengrenyuk Y, Bogunovic D, Gautier EL, Rubinstein D, Hong C, Liu J, Wu C, van Rooijen N, Bhardwaj N, Garabedian M, Tontonoz P, Fisher EA.

Aberrant miR-182 expression promotes melanoma metastasis by repressing FOXO3 and microphthalmia-associated transcription factor. Proceedings of the National Academy of Sciences of the United States of America 2009 Feb; 106(6). Segura MF, Hanniford D, Menendez S, Reavie L, Zou X, Alvarez-Diaz S, Zakrzewski J, Blochin E, Rose A, Bogunovic D, Polsky D, Wei J, Lee P, Belitskaya-Levy I, Bhardwaj N, Osman I, Hernando E.

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease. Human molecular genetics 2013 Feb 15;22(4):769-81. doi: 10.1093/hmg/dds484. Epub 2012  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.

Inhibition of both BRAF and MEK in BRAFV600E mutant melanoma restores compromised dendritic cell (DC) function while having differential direct effects on DC properties. Cancer immunology, immunotherapy : CII 2013 Apr; 62(4). Ott PA, Henry T, Baranda SJ, Frleta D, Manches O, Bogunovic D, Bhardwaj N.

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Blood 2013 Oct; 122(14). Moncada-Vélez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tirpan C, Aksu G, Vincent QB, Boisson B, Itan Y, Ramírez-Alejo N, Okada S, Kreins AY, Bryant VL, Franco JL, Migaud M, Espinosa-Padilla S, Yamazaki-Nakashimada M, Espinosa-Rosales F, Kutukculer N, Abel L, Bustamante J, Vogt G, Casanova JL, Boisson-Dupuis S.