Rubén Martínez-Barricarte
  • Research associate, St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, USA
Research focus
  • -
  • 1 Author merit

Education

PhD, Complutense University of Madrid, Spain, 2011

Publications

· Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J. (2019). Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunology and Cell Biology, 97(4): 360-367.
· Martínez-Barricarte R*, Markle J*, Ramirez-Alejo N, Ma CS, Deenick EK, Mele F, Latorre D, Jovic S, Aytekin C, Mahdaviani SA, Kong XF, Jabot-Hanin F, Deswarte C, Kerner G, Itan Y, Bigio B, Boisson B, Ikinciogullari A, Dogu F, Tanir G, Joseph JK, Heer A, Migaud M, Emile JF, van de Vosse E, Schmidt M, Müller Fleckenstein I, Fleckenstein B, Sette A, Puel A, Mansouri D, Abel L, Boisson-Dupuis S, Bustamante J, Sallusto F, Tangye SG, Casanova JL. (2018). “Both IL-12 and IL-23 govern human IFN-γ immunity to mycobacteria”. Science Immunology, 3(30). pii: eaau6759.
· Boisson-Dupuis S, Ramirez-Alejo N, Zhi L, Patin E, Rao G, Kerner G, Lim CK, Krementsov DN, Hernandez N, Ma CS, Zhang Q, Markle J, Martinez-Barricarte R, Payne K, Fisch R, Deswarte C, Halpern J, Bouaziz M, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Jackson C, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, Tavares Albuquerque JA, Orozco L, Ozcelik T, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Balcells ME, Condino-Neto A, Strickler A, Abarca K, Teuscher C, Ochs HD, Reisli I, Sayar EH, El-Baghdadi J, Bustamante J, Hammarström L, Tangye SG, Pellegrini S, Quintana-Murci L, Abel L, Casanova JL. “Tuberculosis and impaired IL-23-dependent IFN- immunity in humans homozygous for a common TYK2 missense variant”. Science Immunology, 3(30). pii: eaau8714.
· Oleaga-Quintas C, Deswarte C, Metin A, Chikkanayakanahalli I, Kınık Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya Parlakay A, Martínez-Barricarte R, Abel L, Boisson-Dupuis S, Moncada-Vélez M, Kong XF, Casanova JL, Bustamante J. (2018). “A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initial or second codon”. Human Molecular Genetics, 27(22): 3919-3935.
· Kong XF*, Martínez-Barricarte R*, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Lindestam Arlehamn CS, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schröder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL. (2018). “Disruption of an anti-mycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency”. Nature Immunology. 19 (9): 973-985. PMC6130844.
· Guérin A, Kerner G, Marr N, Markle JG, Fenollar F, Wong N, Boughorbel S, Avery DT, Ma CS, Bougarn S, Bouaziz M, Béziat V, Della Mina E, Oleaga-Quintas C, Lazarov T, Worley L, Nguyen T, Patin E, Deswarte C, Martinez-Barricarte R, Boucherit S, Ayral X, Edouard S, Boisson-Dupuis S, Rattina V, Bigio B, Vogt G, Geissmann F, Quintana-Murci L, Chaussabel D, Tangye SG, Raoult D, Abel L, Bustamante J, Casanova JL. (2018). “IRF4 haploinsufficiency in a family with Whipple’s disease”. Elife. e32340. PMC5915175.
· Esteve-Solé A, Sologuren I, Martínez-Saavedra MT, Deyà-Martínez À, Oleaga-Quintas C, Martinez-Barricarte R, Martin-Nalda A, Juan M, Casanova JL, Rodriguez-Gallego C, Alsina L, Bustamante J. (2018). “Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease”. Critical Reviews in Clinical Laboratory Sciences. 55 (3): 184-204. PMC5880527.
· Schimke LF, Hibbard J, Martinez-Barricarte R, Khan TA, de Souza Cavalcante R, Borges de Oliveira Junior E, Takahashi França T, Iqbal A, Yamamoto G, Arslanian C, Feriotti C, da Costa TA, Bustamante J, Boisson-Dupuis S, Casanova JL, Marzagao Barbuto JA, Zatz M, Poncio Mendes R, Garcia Calich VL, Ochs HD, Torgerson TR, Cabral-Marques O, Condino-Neto A. (2017). “Paracoccidioidomycosis associated with a heterozygous STAT4 mutation and impaired IFN-γ immunity”. Journal of Infectious Diseases. 216 (12): 1623-1634.
· Martinez-Barricarte R, de Jong SJ, Markle J, de Paus R, Boissin-Dupuis S, Bustamante J, van de Vosse E, Fleckenstein B, Casanova JL. (2016). “Transduction of herpesvirus saimiri-transformed T cells with exogenous genes of interest”. Current Protocols in Immunology. 115:7.21C.1-7.21C.12.
· Martínez-Saavedra MT, García-Gomez S, Domínguez Acosta A, Mendoza Quintana JJ, Páez JP, García-Reino EJ, Camps G, Martinez-Barricarte R, Itan Y, Boisson B, Sánchez-Ramón S, Regueiro JR, Casanova JL, Rodríguez-Gallego C, Pérez de Diego R. (2016). “Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections”. Clinical Immunology. 173: 117-120.
· Ma CS, Wong N, Rao G, Nguyen A, Avery DT, Payne K, Torpy J, O'Young P, Deenick E, Bustamante J, Puel A, Okada S, Kobayashi M, Martinez-Barricarte R, Elliott M, Sebnem Kilic S, El Baghdadi J, Minegishi Y, Bousfiha A, Robertson N, Hambleton S, Arkwright PD, French M, Blincoe AK, Hsu P, Campbell DE, Stormon MO, Wong M, Adelstein S, Fulcher DA, Cook MC, Stepensky P, Boztug K, Beier R, Ikincioğullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG. (2016). “Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets”. Journal of Experimental Medicine. 213 (8): 1589-1608. PMC4986526.
· Pöyhönen L, Kröger L, Huhtala H, Mäkinen J, Mertsola J, Martinez-Barricarte R, Casanova JL, Bustamante J, He Q, Korppi M. (2016). “Interferon-Gamma-Dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors”. Pediatric Infectious Disease Journal. 35 (6): 690-694. PMC4865404.
· Garcia-Gomez S*, Alvarez Doforno R*, Martinez-Barricarte R*, Torres JM, Ferreira Cerdan A, Davila M, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Vallejo-Cremades MT, López-Collazo E, Fernández Arquero M, Sánchez-Ramón S, Casanova JL, Pérez de Diego R. (2016). “Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent”. Clinical Immunology. 163: 120-122.
· Itan Y, Shang L, Boisson B, Ciancanelli MJ, Markle JG, Martinez-Barricarte R, Scott E, Shah I, Stenson PD, Gleeson J, Cooper DN, Quintana-Murci L, Zhang SY, Abel L, Casanova JL. (2016). “The mutation significance cutoff: gene-level thresholds for variant predictions”. Nature Methods. 13 (2):109-110. PMC4640721.
· Perez de Diego R, Sanchez-Ramon S, Lopez-Collazo E, Martínez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdan A, Casanova JL, Puel A. (2015). “Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity”. Journal of Allergy Clinical Immunology. 136 (5): 1139-1149. PMC4894862.
· Itan Y, Shang L, Boisson B, Patin E, Bolze A, Moncada-Vélez M, Scott E, Ciancanelli MJ, Lafaille FG, Markle JG, Martinez-Barricarte R, de Jong SJ, Kong XF, Nitschke P, Belkadi A, Bustamante J, Puel A, Boisson-Dupuis S, Stenson PD, Gleeson JG, Cooper DN, Quintana-Murci L, Claverie JM, Zhang SY, Abel L, Casanova JL. (2015). “The human gene damage index as a gene-level approach to prioritizing exome variants”. Proceedings of the National Academy of Sciences U.S.A. 112 (44): 13615-13620.
· Kreins AY, Ciancanelli M, Satoshi S, Kong XF, Ramirez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Bernasconi A, Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Halwani R, Grant A, Boisson B, Bogunovic D, Itan Y, Moncada-Velez M, Martinez-Barricarte R, Migaud M, Deswarte C, Alsina L, Kotlarz D, Klein C, Muller-Fleckenstein I, Fleckenstein B, Cormier-Daire V, Rose-John S, Picard C, Hammarstrom L, Puel A, Al-Muhsen S, Abel L, Chaussabe D, Rozensweig S, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. (2015). “Human TYK2 deficiency: mycobacterial and viral infections without hyper IgE syndrome”. Journal of Experimental Medicine. 212 (10): 1641-1662. PMC4577846.
· Okada S, Markle JG, Deenick EK, Mele F, Averbuch D, Lagos M, Alzahrani M, Al-Muhsen S, Halwani R, Ma CS, Wong N, Soudais C, Marzouqa H, Schamma J, Gonzalez M, Martinez-Baricarte R, Okada C, Avery DT, Migaud M, Deswarte C, Jabot-Hanin F, Belkadi A, Itan Y, Boisson B, Breton S, McCluskey J, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. (2015). “Impairment of IL-17 immunity to Candida and IFN-γ immunity to Mycobacterium in humans with inherited RORγT deficiency”. Science. 349 (6248): 606-613. PMC4668938.
· Martinez-Barricarte R*, Heurich M*, Lopez-Perrote A*, Tortajada A, Pinto S, Lopez-Trascasa M, Sanchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodriguez de Cordoba S. (2015). “The molecular and structural bases for the association of three mutations in the complement component C3 with atypical hemolytic uremic syndrome”. Molecular Immunology. 66 (2): 263-273. PMC4503813.
· Torres JM*, Martinez-Barricarte R*, García-Gómez S*, Mazariegos MS*, Itan Y, Boisson B, Rholvarez R, Jiménez-Reinoso A, Del Pino L, Rodríguez-Pena R, Ferreira A, Hernández-Jiménez E, Toledano V, Cubillos-Zapata C, Díaz-Almirón M, López-Collazo E, Unzueta-Roch JL, Sánchez-Ramón S, Regueiro JR, López-Granados E, Casanova JL, Pérez de Diego R. (2014). “Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity”. Journal of Clinical Investigation. 124 (12): 5239-5248. PMC4348943.
· Martínez-Barricarte R*, Megged O*, Stepensky P*, Casimir P, Moncada-Velez M, Averbuch D, Victor Assous M, Abuzaitoun O, Kong XF, Pedergnana V, Deswarte C, Migaud M, Rose-John S, Itan Y, Boisson B, Belkadi A, Conti F, Abel L, Vogt G, Boisson-Dupuis S, Casanova JL, Bustamante J. (2014). “Mycobacterium simiae infection in two unreltaed patients with different forms of inherited IFN-γR2 deficiency”. Journal of Clinical Immunology. 34 (8): 904-909. PMC4241769.
· Baba LA, Ailal F, Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui W, Tissent A, Mahraou C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Alj HS, Bousfiha AA. (2014). “Chronic granulomatous disease in Morocco: Genetic, immunological, and clinical features of 12 patients from 10 kindreds”. Journal of Clinical Immunology. 34 (4): 452-458.
· Moncada-Velez M, Martinez-Barricarte R, Bogunovic D, Kong XF, Blancas-Galicia L, Tripan C, Aksu G, Vincent QB, Boison B, Itan Y, Ramirez-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. (2013). “Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued with inhibitors of glycosilation”. Blood. 122 (14): 2390-2401. PMC3790508.
· Tortajada A, Yébenes H, Abarrategui-Garrido C, Anter J, J García-Fernández JM, Martínez-Barricarte R, Alba-Domínguez M, Malik TH, Bedoya R, Cabrera Pérez R, López-Trascasa M, Pickering MC, Harris CL, Sánchez-Corral P, Llorca O, Rodríguez de Córdoba S. (2013). “C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation”. Journal of Clinical Investigation. 123 (6): 2434-2446. PMC3668852.
· Martínez-Barricarte R, Recalde S, Fernández-Robredo P, Millán I, Olavarrieta L, Viñuela A, Pérez-Pérez J, García-Layana A, Rodríguez de Córdoba S, on behalf of the Spanish Multi-centre Group of AMD. (2012). “Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration (AMD)”. Investigative Ophthalmology and Visual Science. 53 (3):1087-1094
· Alcorlo M, Martínez-Barricarte R, Fernández FJ. Rodríguez-Gallego C, Round A, Vega MA, Harris CL, Rodríguez de Córdoba S, Llorca O. (2011). “Unique structure of iC3b resolved at a resolution of 24 Å by 3D-Electron Microscopy”. Proceedings of the National Academy of Sciences U.S.A. 108 (32):13236-40. PMC3156172.
· Heurich M, Martínez-Barricarte R, Francis NJ, Roberts DL, Rodríguez de Córdoba S, Morgan BP, Harris CL. (2011). “Common polymorphisms in C3, factor B and factor H collaborate to determine systemic complement activity and disease risk”. Proceedings of the National Academy of Sciences U.S.A. 108 (21):8761-8766. PMC3102398.
· Martínez-Barricarte R*, Heurich M*, Valdés-Cañedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada A, Pinto S, López-Trascasa M, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba1 S. (2010). “Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation”. Journal of Clinical Investigation. 120 (10):3702-3712. PMC2947238.
· Gale DP, Goicoechea de Jorge E, Cook HT, Martínez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, Rodriguez de Cordoba S, Maxwell PH, Pickering MC. (2010). “Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis”. The Lancet. 376 (9743):794-801. PMC2935536.
· Moreno-Navarrete JM, Martínez-Barricarte R, Catalán V, Sabater M, Gómez-Ambrosi J, Ortega FJ, Ricart W, Blüher M, Frühbeck G, Rodríguez de Córdoba S, Fernández-Real MJ. (2010). “Complement Factor H is expressed in adipose tissue in association with insulin resistance”. Diabetes. 59 (1):200-209. PMC2797922.
· Abarrategui-Garrido C*, Martinez-Barricarte R*, Lopez-Trascasa M, Rodriguez de Cordoba S, Sanchez-Corral, S. (2009) “Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome”. Blood. 114 (19): 4261-4271.
· Tortajada A, Montes T, Martínez-Barricarte R, Morgan, BP, Harris, CL, Rodríguez de Córdoba, S. (2009). “The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity”. Human Molecular Genetics. 18 (18):3452-61. PMC3272369.
· Martínez-Barricarte R, Goicoechea de Jorge E, Montes T, García-Layana A, Rodríguez de Córdoba S. (2009). “Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population”. Clinical and Experimental Immunology. 155 (1):59-64. PMC2665680.
· Martínez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi, G, Rodríguez de Córdoba, S, on behalf of the European Working Party on the Genetics of aHUS (2008). “The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome”. Journal of the American Society of Nephrology. 19 (3):639-646. PMC2391060.
· Pickering MC, Goicoechea de Jorge E, Martínez-Barricarte R, Recalde S, García-Layana A, Rose KL, Moss H, Walport MJ, Cook HT, Rodríguez de Córdoba S, Botto M. (2007). “Spontaneous hemolytic uremic syndrome triggred by complement factor H lacking surface recognition domains”. Journal of Experimental Medicine. 204 (6):1249-1256. PMC2118613.
· Bandrés E, Barricarte R, Cantero C, Honorato B, Malumbres R, Zárate R, Alcalde J, García-Foncillas, J. (2007). “Epidermal growth factor receptor (EGFR) polymorphisms and survival in head and neck cancer patients”. Oral oncology. 43:713-719.

(*Joint first authors)
1 Protocol published
Measurement of CD74 N-terminal Fragment Accumulation in Cells Treated with SPPL2a Inhibitor
Authors:  Rubén Martínez-Barricarte, Xiao-Fei Kong and Jean-Laurent Casanova, date: 06/05/2019, view: 237, Q&A: 0
The recent discovery of human signal peptide peptidase-like 2a (SPPL2a) deficiency in humans revealed the toxicity associated with the accumulation of one of its substrates, CD74 N-terminal fragment (CD74-NTF), for certain type of dendritic cells ...
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