Publications

1. Lee, D., Pen, J. L., Yatim, A., Dong, B., … Belkaya, S., … Zhang, SY., & Casanova, JL. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children. (2022) SciencePDF

2. Gök, V., Erdem, Ş., Haliloğlu, Y., Bişgin, A., Belkaya, S., Başaran, K. E., Canatan, M. F., Özcan, A., Yılmaz, E., Acıpayam, C., Karakükcü, M., Canatan, H., Per, H., Patıroğlu, T., Eken, A., & Ünal, E. Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment. (2022) Genes and immunity. Advance online publication. 

3. Korol, C.B., Belkaya, S., Alsohime, F. et al. Fulminant Viral Hepatitis in Two Siblings with Inherited IL-10RB Deficiency. (2022) J Clin Immunol   PDF

4. Tepe, Z. G., Yazıcı, Y. Y., Tank, U., Köse, L. I., Özer, M., Aytekin, C., & Belkaya, S. Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis. (2022) Journal of clinical immunology  PDF

5. Kabbani, M., Michailidis, E., … Belkaya, S., … de Jong, Y. P. Human hepatocyte PNPLA3-148M exacerbates rapid non-alcoholic fatty liver disease development in chimeric mice. (2022) Cell reports40(11), 111321. PDF

6. Lévy R, Langlais D, … Belkaya S, … Casanova JL, Puel A. Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to various infectious agents (2021) Journal of Clinical Investigation 131(17)  PDF

7.Beziat V, Rapaport F, Hu J, … Belkaya S, … Bossuyt X, Shahrooei M, and Casanova JL. Inherited CD28 deficiency in otherwise healthy patients with disseminated warts or giant horns. (2021) Cell 2021 Jul 8;184(14):3812-3828.  PDF

8.Belkaya S. iPSCs for modeling coxsackievirus infection. in iPSCs for Studying Infectious Diseases (Birbrair, A. ed.), Volume 8 (ISBN 9780128238080). Elsevier (2021)   PDF

9.     Coskun F, Srivastava S, Raj P, Dozmorov I, Belkaya S, Mehra S, Golden N, Bucsan A, Chapagain M, Wakeland E, Kaushal D, Gumbo T, and van Oers N. sncRNA-1 is a small noncoding RNA produced by Mycobacterium tuberculosis in infected cells that positively regulates genes coupled to oleic acid biosynthesis. (2020Frontiers in Microbiology. 11 (1631): eCollection 2020  PDF

10.    Drutman S, Mansouri D, Mahdaviani SA, Neehus A-L, Hum D, Bryk R, Hernandez N, Belkaya S, Rapaport F, Bigio B, Fisch R, Rahman M, Khan T, Al Ali F, Majid M, Mansouri N, Lorenzo-Diaz L, Emile J-F, Marr N, Jouanguy E, Bustamante J, Abel L, Boisson-Dupuis S, Béziat V, Nathan C, and Casanova J-L. Fatal cytomegalovirus infection in an adult with inherited NOS2 deficiency. (2020New England Journal of Medicine. 382 (5): 437-445  PDF

11.    Drutman S, Haerynck F, … Belkaya S, … Jouanguy E, Reversade B, and Casanova J-L. Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. (2019Proceedings of the National Academy of Sciences. 116 (38): 19055-19063  PDF

12.    Hernandez NJ, Bucciol G, … Belkaya S, … Rice CM, Casanova J-L, Jouanguy E, Bossuyt X. Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines. (2019) Journal of Experimental Medicine. 216 (9): 2057-2070  PDF

13.   Belkaya S, Michailidis E, Korol BC, Kabbani M, Cobat A, Bastard P, Lee YS, Hernandez NJ, Drutman S, de Jong YP, Vivier E, Bruneau J, Beziat V, Boisson B, Lorenzo L, Boucherit S, Sebagh M, Jacquemin E, Emile J-F, Abel L, Rice CM, Jouanguy E, Casanova J-L. Inherited IL-18BP deficiency in human fulminant viral hepatitis. (2019) Journal of Experimental Medicine. 216 (8): 1777-1790  PDF

14.    Hernandez N, Melki I, … Belkaya S, … Su HC, Casanova J-L. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency(2018) Journal of Experimental Medicine.​ 215 (10): 2567-2585.  PDF

15.     Regateiro F*Belkaya S*, Neves N, Ferreira S, Silvestre P, Lemos S, Venâncio M, Casanova J-L, Gonçalves I, Jouanguy E, Diogo L. Recurrent elevated liver transaminases and acute liver failure in two siblings with novel bi-allelic mutations of NBAS. (2017) European Journal of Medical Genetics. 60(8):426-432. *Co-first authors  PDF

16.  Belkaya S#, Kontorovich AR, Byun M, Mulero-Navarro S, Bajolle F, Cobat A, Josowitz R, Itan Y, Quint R, Lorenzo L, Boucherit S, Stoven C, Di Filippo S, Abel L, Zhang S-Y, Bonnet D Gelb BD, Casanova J-L. Autosomal recessive cardiomyopathy presenting as acute myocarditis. (2017) Journal of the American College of Cardiology. 69:1653–65. #Corresponding author  PDF

17. Belkaya S and van Oers NS. Transgenic expression of microRNA-181d augments the stress sensitivity of CD4+CD8thymocytes. (2014) PLoS One. 9 (1): e85274  PDF

18. Belkaya S, Murray SE, Eitson JL, de la Morena MT, Forman J, van Oers NS. Transgenic expression of microRNA-185 causes a developmental arrest of T cells by targeting multiple genes including Mzb1. (2013) Journal of Biological Chemistry. 288 (42): 30752-62 PDF

19.  de la Morena MT, Eitson JL, Dozmorov IM, Belkaya S, Hoover AR, Anguiano E, Pascual MV, van Oers NS. Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. (2013) Clinical Immunology. 147 (1): 11-22  PDF

20.  Cevik SI, Keskin N, Belkaya S, Ozlu MI, Deniz E, Tazebay UH, Erman B. CD81 interacts with the T cell receptor to suppress signaling. (2012) PLoS One. 7 (11): e50396  PDF

21.  Schmalstieg AM, Srivastava S, Belkaya S, Deshpande D, Meek C, Leff R, van Oers NS, Gumbo T. The antibiotic resistance arrow of time: efflux pump induction is a general first step in the evolution of mycobacterial drug resistance. (2012) Antimicrobial Agents and Chemotherapy. 56 9): 4806-15  PDF

22.  Belkaya S, Silge RL, Hoover AR, Medeiros JJ, Eitson JL, Becker AM, de la Morena MT, Bassel-Duby RS, van Oers NS. Dynamic modulation of thymic microRNAs in response to stress. (2011) PLoS One. 6 (11): e27580.  PDF

23. DeFord-Watts LM, Dougall DS, Belkaya S, Johnson BA, Eitson JL, Roybal KT, Barylko B, Albanesi JP, Wülfing C, van Oers NS. The CD3 ζ subunit contains a phosphoinositide-binding motif that is required for the stable accumulation of TCR/CD3 complex at the immunological synapse. (2011) Journal of Immunology. 186 (12): 6839-47  PDF