Ruben Martinez Barricarte, Ph.D.

Assistant Professor
Faculty Appointments
Assistant Professor of Medicine Assistant Professor of Pathology, Microbiology and Immunology
Ph.D., Biochemisty and Molecular Biology, Universidad Complutense de Madrid, Madrid, SpainM.Sc., Universidad Complutense de Madrid, Madrid, SpainB.Sc., Biochemistry, University of Navarra, Pamplona, Spain
Research Description
Inborn errors of immunity (IEI) are a heterogeneous group of diseases that lead to severe infection, autoimmunity, and malignancy. Mutations in genes that affect the development and/or function of the immune system cause IEI. The genetic study of IEI is extremely important and insightful from the immunological and clinical points of view. Clinically, the knowledge gained by studying IEI allows physicians to provide genetic counseling for families, diagnoses for patients, and the application of preventive treatments for individuals at risk. Immunologically, the in-depth functional characterization of mutations causing IEI showcases the critical and non-redundant roles of specific molecules, cells, and pathways in the proper assembly of human immune responses. Furthermore, the immune mechanisms learned by the functional characterization of mutations causing IEI provides the basis for developing immunotherapies to benefit a more significant number of patients. Despite the advances in the study of IEI that happened during the past years, half of the patients with IEI lack a genetic diagnosis.

My lab specializes in the genetic, molecular, and immunological dissection of IEI of unknown cause. We focus on IEI that cause susceptibility to severe infectious diseases. Through an international network of collaborators, we have recruited two growing cohorts of patients; one consisting of patients suffering from recurrent severe infections by multiple pathogens since early childhood and a second one with patients that have a selective susceptibility to severe infection by just one kind of pathogen. In this second group, we are interested in patients with a severe presentation of the endemic mycoses of the US (Histoplasmosis, Coccidioidomycosis, and Blastomycosis) as well as patients with isolated nocardiosis. We perform whole-exome and whole-genome sequencing of these patients and their families; we try to identify the mutations that cause this IEI, and, most importantly, we use a combination of molecular biology, human immunology, and biochemistry to characterize these mutations functionally. Our findings will provide the basis for genetic diagnosis and preventive treatment for these groups of patients.

For more information:
Research Keywords
Primary immunodeficiencies, inborn errors of immunity, human genetics, human immunology, molecular biology, infectious diseases, immunogenetics
Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, Rapaport F, Deswarte C, Guérin A, Sajjath SM, Zhou YJ, Marot S, Lozano C, Branco L, Fernández-Hidalgo N, Lew DB, Brunel AS, Thomas C, Launay E, Arias AA, Cuffel A, Monjo VC, Neehus AL, Marques L, Roynard M, Moncada-Vélez M, Gerçeker B, Colobran R, Vigué MG, Lopez-Herrera G, Berron-Ruiz L, Méndez NHS, O'Farrill Romanillos P, Le Voyer T, Puel A, Bellanné-Chantelot C, Ramirez KA, Lorenzo-Diaz L, Alejo NR, de Diego RP, Condino-Neto A, Mellouli F, Rodriguez-Gallego C, Witte T, Restrepo JF, Jobim M, Boisson-Dupuis S, Jeziorski E, Fieschi C, Vogt G, Donadieu J, Pasquet M, Vasconcelos J, Ardeniz FO, Martínez-Gallo M, Campos RA, Jobim LF, Martínez-Barricarte R, Liu K, Cobat A, Abel L, Casanova JL, Bustamante J. Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance. J Clin Immunol [print-electronic]. 2021 Apr; 41(3): 639-57. PMID: 33417088, PII: 10.1007/s10875-020-00930-3, DOI: 10.1007/s10875-020-00930-3, ISSN: 1573-2592.

Kerner G, Rosain J, Guérin A, Al-Khabaz A, Oleaga-Quintas C, Rapaport F, Massaad MJ, Ding JY, Khan T, Ali FA, Rahman M, Deswarte C, Martinez-Barricarte R, Geha RS, Jeanne-Julien V, Garcia D, Chi CY, Yang R, Roynard M, Fleckenstein B, Rozenberg F, Boisson-Dupuis S, Ku CL, Seeleuthner Y, Béziat V, Marr N, Abel L, Al-Herz W, Casanova JL, Bustamante J. Inherited human IFN-¿ deficiency underlies mycobacterial disease. J Clin Invest. 2020 Jun 6/1/2020; 130(6): 3158-71. PMID: 32163377, PMCID: PMC7260033, PII: 135460, DOI: 10.1172/JCI135460, ISSN: 1558-8238.

Van Den Rym A, Taur P, Martinez-Barricarte R, Lorenzo L, Puel A, Gonzalez-Navarro P, Pandrowala A, Gowri V, Safa A, Toledano V, Cubillos-Zapata C, López-Collazo E, Vela M, Pérez-Martínez A, Sánchez-Ramón S, Recio MJ, Casanova JL, Desai MM, Perez de Diego R. Human BCL10 Deficiency due to Homozygosity for a Rare Allele. J Clin Immunol [print-electronic]. 2020 Feb; 40(2): 388-98. PMID: 32008135, PII: 10.1007/s10875-020-00760-3, DOI: 10.1007/s10875-020-00760-3, ISSN: 1573-2592.

Martínez-Barricarte R. Isolated Nocardiosis, an Unrecognized Primary Immunodeficiency?. Front Immunol. 2020; 11: 590239. PMID: 33193422, PMCID: PMC7606290, DOI: 10.3389/fimmu.2020.590239, ISSN: 1664-3224.

Martínez-Barricarte R, Kong XF, Casanova JL. Measurement of CD74 N-terminal Fragment Accumulation in Cells Treated with SPPL2a Inhibitor. Bio Protoc. 2019 Jun 6/5/2019; 9(11): e3254. PMID: 33654779, PMCID: PMC7854177, PII: 3254, DOI: 10.21769/BioProtoc.3254, ISSN: 2331-8325.

García-Gómez S, Chaparro R, Safa A, Van Den Rym A, Martinez-Barricarte R, Lorenzo L, Sánchez-Ramón S, Toledano V, Cubillos-Zapata C, López-Collazo E, Martín-Arranz MD, Martín-Arranz E, Vela M, Gonzalez-Navarro P, Pérez-Martínez A, Casanova JL, Recio MJ, Pérez de Diego R. Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency. J Allergy Clin Immunol [print-electronic]. 2019 May; 143(5): 1931-1934.e1. PMID: 30660642, PII: S0091-6749(19)30017-X, DOI: 10.1016/j.jaci.2018.12.1000, ISSN: 1097-6825.

Rosain J, Kong XF, Martinez-Barricarte R, Oleaga-Quintas C, Ramirez-Alejo N, Markle J, Okada S, Boisson-Dupuis S, Casanova JL, Bustamante J. Mendelian susceptibility to mycobacterial disease: 2014-2018 update. Immunol Cell Biol [print-electronic]. 2019 Apr; 97(4): 360-7. PMID: 30264912, PMCID: PMC6438774, DOI: 10.1111/imcb.12210, ISSN: 1440-1711.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. A purely quantitative form of partial recessive IFN-¿R2 deficiency caused by mutations of the initiation or second codon. Hum Mol Genet. 2019 Feb 2/1/2019; 28(3): 524. PMID: 30329057, PMCID: PMC6337693, PII: 5133695, DOI: 10.1093/hmg/ddy357, ISSN: 1460-2083.

Boisson-Dupuis S, Ramirez-Alejo N, Li Z, 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, Mulwa J, Sivanesan D, Lazarov T, Naves R, Garcia P, Itan Y, Boisson B, Checchi A, Jabot-Hanin F, Cobat A, Guennoun A, Jackson CC, Pekcan S, Caliskaner Z, Inostroza J, Costa-Carvalho BT, de Albuquerque JAT, Garcia-Ortiz H, Orozco L, Ozcelik T, Abid A, Rhorfi IA, Souhi H, Amrani HN, Zegmout A, Geissmann F, Michnick SW, Muller-Fleckenstein I, Fleckenstein B, Puel A, Ciancanelli MJ, Marr N, Abolhassani H, 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. Sci Immunol. 2018 Dec 12/21/2018; 3(30): PMID: 30578352, PMCID: PMC6341984, PII: 3/30/eaau8714, DOI: 10.1126/sciimmunol.aau8714, ISSN: 2470-9468.

Martínez-Barricarte R, Markle JG, Ma CS, Deenick EK, Ramírez-Alejo N, Mele F, Latorre D, Mahdaviani SA, Aytekin C, Mansouri D, Bryant VL, Jabot-Hanin F, Deswarte C, Nieto-Patlán A, Surace L, Kerner G, Itan Y, Jovic S, Avery DT, Wong N, Rao G, Patin E, Okada S, Bigio B, Boisson B, Rapaport F, Seeleuthner Y, Schmidt M, Ikinciogullari A, Dogu F, Tanir G, Tabarsi P, Bloursaz MR, Joseph JK, Heer A, Kong XF, Migaud M, Lazarov T, Geissmann F, Fleckenstein B, Arlehamn CL, Sette A, Puel A, Emile JF, van de Vosse E, Quintana-Murci L, Di Santo JP, Abel L, Boisson-Dupuis S, Bustamante J, Tangye SG, Sallusto F, Casanova JL. Human IFN-¿ immunity to mycobacteria is governed by both IL-12 and IL-23. Sci Immunol. 2018 Dec 12/21/2018; 3(30): PMID: 30578351, PMCID: PMC6380365, PII: 3/30/eaau6759, DOI: 10.1126/sciimmunol.aau6759, ISSN: 2470-9468.

Oleaga-Quintas C, Deswarte C, Moncada-Vélez M, Metin A, Krishna Rao I, Kanik-Yüksek S, Nieto-Patlán A, Guérin A, Gülhan B, Murthy S, Özkaya-Parlakay A, Abel L, Martínez-Barricarte R, Pérez de Diego R, Boisson-Dupuis S, Kong XF, Casanova JL, Bustamante J. A purely quantitative form of partial recessive IFN-¿R2 deficiency caused by mutations of the initiation or second codon. Hum Mol Genet. 2018 Nov 11/15/2018; 27(22): 3919-35. PMID: 31222290, PMCID: PMC6216222, PII: 5066161, DOI: 10.1093/hmg/ddy275, ISSN: 1460-2083.

Kong XF, Martinez-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, Arlehamn CSL, 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. Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency. Nat Immunol [print-electronic]. 2018 Sep; 19(9): 973-85. PMID: 30127434, PMCID: PMC6130844, PII: 10.1038/s41590-018-0178-z, DOI: 10.1038/s41590-018-0178-z, ISSN: 1529-2916.

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. Laboratory evaluation of the IFN-¿ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease. Crit Rev Clin Lab Sci [print-electronic]. 2018 May; 55(3): 184-204. PMID: 29502462, PMCID: PMC5880527, DOI: 10.1080/10408363.2018.1444580, ISSN: 1549-781X.

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. IRF4 haploinsufficiency in a family with Whipple's disease. Elife. 2018 Mar 3/14/2018; 7: PMID: 29537367, PMCID: PMC5915175, PII: 32340, DOI: 10.7554/eLife.32340, ISSN: 2050-084X.

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, 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. Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-¿ Immunity. J Infect Dis. 2017 Dec 12/19/2017; 216(12): 1623-34. PMID: 29029192, PII: 4348483, DOI: 10.1093/infdis/jix522, ISSN: 1537-6613.

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. Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections. Clin Immunol [print-electronic]. 2016 Dec; 173: 117-20. PMID: 27693481, PII: S1521-6616(16)30222-4, DOI: 10.1016/j.clim.2016.09.011, ISSN: 1521-7035.

Martínez-Barricarte R, de Jong SJ, Markle J, de Paus R, Boisson-Dupuis S, Bustamante J, van de Vosse E, Fleckenstein B, Casanova JL. Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest. Curr Protoc Immunol. 2016 Nov 11/1/2016; 115: 7.21C.1-7.21C.12. PMID: 27801513, DOI: 10.1002/cpim.15, ISSN: 1934-368X.

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, Ikinciogullari A, Ziegler JB, Gray P, Picard C, Boisson-Dupuis S, Phan TG, Grimbacher B, Warnatz K, Holland SM, Uzel G, Casanova JL, Tangye SG. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. J Exp Med [print-electronic]. 2016 Jul 7/25/2016; 213(8): 1589-608. PMID: 27401342, PMCID: PMC4986526, PII: jem.20151467, DOI: 10.1084/jem.20151467, ISSN: 1540-9538.

Pöyhönen L, Kröger L, Huhtala H, Mäkinen J, Mertsola J, Martinez-Barricarte R, Casanova JL, Bustamante J, He Q, Korppi M. Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors. Pediatr Infect Dis J. 2016 Jun; 35(6): 690-4. PMID: 26954602, PMCID: PMC4865404, DOI: 10.1097/INF.0000000000001127, ISSN: 1532-0987.

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. The mutation significance cutoff: gene-level thresholds for variant predictions [letter]. Nat Methods. 2016 Feb; 13(2): 109-10. PMID: 26820543, PMCID: PMC4980758, PII: nmeth.3739, DOI: 10.1038/nmeth.3739, ISSN: 1548-7105.

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. Actin polymerisation after FC¿R stimulation of human fibroblasts is BCL10 independent [letter]. Clin Immunol [print-electronic]. 2016 Feb; 163: 120-2. PMID: 26774590, PII: S1521-6616(16)30003-1, DOI: 10.1016/j.clim.2016.01.003, ISSN: 1521-7035.

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. The human gene damage index as a gene-level approach to prioritizing exome variants. Proc Natl Acad Sci U S A [print-electronic]. 2015 Nov 11/3/2015; 112(44): 13615-20. PMID: 26483451, PMCID: PMC4640721, PII: 1518646112, DOI: 10.1073/pnas.1518646112, ISSN: 1091-6490.

Pérez de Diego R, Sánchez-Ramón S, López-Collazo E, Martínez-Barricarte R, Cubillos-Zapata C, Ferreira Cerdán A, Casanova JL, Puel A. 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. J Allergy Clin Immunol [print-electronic]. 2015 Nov; 136(5): 1139-49. PMID: 26277595, PMCID: PMC4894862, PII: S0091-6749(15)00913-6, DOI: 10.1016/j.jaci.2015.06.031, ISSN: 1097-6825.

Kreins AY, Ciancanelli MJ, Okada S, Kong XF, Ramírez-Alejo N, Kilic SS, El Baghdadi J, Nonoyama S, Mahdaviani SA, Ailal F, Bousfiha A, Mansouri D, Nievas E, Ma CS, Rao G, Bernasconi A, Sun Kuehn H, Niemela J, Stoddard J, Deveau P, Cobat A, El Azbaoui S, Sabri A, Lim CK, Sundin M, Avery DT, Halwani R, Grant AV, 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, Chaussabel D, Rosenzweig SD, Minegishi Y, Tangye SG, Bustamante J, Casanova JL, Boisson-Dupuis S. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J Exp Med [print-electronic]. 2015 Sep 9/21/2015; 212(10): 1641-62. PMID: 26304966, PMCID: PMC4577846, PII: jem.20140280, DOI: 10.1084/jem.20140280, ISSN: 1540-9538.

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, Henderson LA, Marzouqa H, Shamma J, Gonzalez M, Martinez-Barricarte R, Okada C, Avery DT, Latorre D, Deswarte C, Jabot-Hanin F, Torrado E, Fountain J, Belkadi A, Itan Y, Boisson B, Migaud M, Arlehamn CSL, Sette A, Breton S, McCluskey J, Rossjohn J, de Villartay JP, Moshous D, Hambleton S, Latour S, Arkwright PD, Picard C, Lantz O, Engelhard D, Kobayashi M, Abel L, Cooper AM, Notarangelo LD, Boisson-Dupuis S, Puel A, Sallusto F, Bustamante J, Tangye SG, Casanova JL. IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science [print-electronic]. 2015 Aug 8/7/2015; 349(6248): 606-13. PMID: 26160376, PMCID: PMC4668938, DOI: 10.1126/science.aaa4282, ISSN: 1095-9203.

Martínez-Barricarte R, Heurich M, López-Perrote A, Tortajada A, Pinto S, López-Trascasa M, Sánchez-Corral P, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome. Mol Immunol [print-electronic]. 2015 Aug; 66(2): 263-73. PMID: 25879158, PMCID: PMC4503813, PII: S0161-5890(15)00352-1, DOI: 10.1016/j.molimm.2015.03.248, ISSN: 1872-9142.

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. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J Clin Invest [print-electronic]. 2014 Dec; 124(12): 5239-48. PMID: 25365219, PMCID: PMC4348943, PII: 77493, DOI: 10.1172/JCI77493, ISSN: 1558-8238.

Martínez-Barricarte R, Megged O, Stepensky P, Casimir P, Moncada-Velez M, Averbuch D, Assous MV, 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. Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-¿R2 deficiency. J Clin Immunol [print-electronic]. 2014 Nov; 34(8): 904-9. PMID: 25135595, PMCID: PMC4241769, DOI: 10.1007/s10875-014-0085-5, ISSN: 1573-2592.

Baba LA, Ailal F, El Hafidi N, Hubeau M, Jabot-Hanin F, Benajiba N, Aadam Z, Conti F, Deswarte C, Jeddane L, Aglaguel A, El Maataoui O, Tissent A, Mahraoui C, Najib J, Martinez-Barricarte R, Abel L, Habti N, Saile R, Casanova JL, Bustamante J, Salih Alj H, Bousfiha AA. Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds. J Clin Immunol [print-electronic]. 2014 May; 34(4): 452-8. PMID: 24596025, DOI: 10.1007/s10875-014-9997-3, ISSN: 1573-2592.

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. Partial IFN-¿R2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. Blood [print-electronic]. 2013 Oct 10/3/2013; 122(14): 2390-401. PMID: 23963039, PMCID: PMC3790508, PII: S0006-4971(20)49954-9, DOI: 10.1182/blood-2013-01-480814, ISSN: 1528-0020.

Tortajada A, Yébenes H, Abarrategui-Garrido C, Anter 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. C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation. J Clin Invest. 2013 Jun; 123(6): 2434-46. PMID: 23728178, PMCID: PMC3668852, PII: 68280, DOI: 10.1172/JCI68280, ISSN: 1558-8238.

Martínez-Barricarte R, Recalde S, Fernández-Robredo P, Millán I, Olavarrieta L, Viñuela A, Pérez-Pérez J, García-Layana A, Rodríguez de Córdoba S, . Relevance of complement factor H-related 1 (CFHR1) genotypes in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2012 Mar 3/1/2012; 53(3): 1087-94. PMID: 22247456, PII: iovs.11-8709, DOI: 10.1167/iovs.11-8709, ISSN: 1552-5783.

Alcorlo M, Martínez-Barricarte R, Fernández FJ, Rodríguez-Gallego C, Round A, Vega MC, Harris CL, de Cordoba SR, Llorca O. Unique structure of iC3b resolved at a resolution of 24 Å by 3D-electron microscopy. Proc Natl Acad Sci U S A [print-electronic]. 2011 Aug 8/9/2011; 108(32): 13236-40. PMID: 21788512, PMCID: PMC3156172, PII: 1106746108, DOI: 10.1073/pnas.1106746108, ISSN: 1091-6490.

Heurich M, Martínez-Barricarte R, Francis NJ, Roberts DL, Rodríguez de Córdoba S, Morgan BP, Harris CL. Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk. Proc Natl Acad Sci U S A [print-electronic]. 2011 May 5/24/2011; 108(21): 8761-6. PMID: 21555552, PMCID: PMC3102398, PII: 1019338108, DOI: 10.1073/pnas.1019338108, ISSN: 1091-6490.

Martínez-Barricarte R, Heurich M, Valdes-Cañedo F, Vazquez-Martul E, Torreira E, Montes T, Tortajada A, Pinto S, Lopez-Trascasa M, Morgan BP, Llorca O, Harris CL, Rodríguez de Córdoba S. Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation. J Clin Invest [print-electronic]. 2010 Oct; 120(10): 3702-12. PMID: 20852386, PMCID: PMC2947238, PII: 43343, DOI: 10.1172/JCI43343, ISSN: 1558-8238.

Gale DP, de Jorge EG, Cook HT, Martinez-Barricarte R, Hadjisavvas A, McLean AG, Pusey CD, Pierides A, Kyriacou K, Athanasiou Y, Voskarides K, Deltas C, Palmer A, Frémeaux-Bacchi V, de Cordoba SR, Maxwell PH, Pickering MC. Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis. Lancet [print-electronic]. 2010 Sep 9/4/2010; 376(9743): 794-801. PMID: 20800271, PMCID: PMC2935536, PII: S0140-6736(10)60670-8, DOI: 10.1016/S0140-6736(10)60670-8, ISSN: 1474-547X.

Moreno-Navarrete JM, Martínez-Barricarte R, Catalán V, Sabater M, Gómez-Ambrosi J, Ortega FJ, Ricart W, Blüher M, Frühbeck G, Rodríguez de Cordoba S, Fernández-Real JM. Complement factor H is expressed in adipose tissue in association with insulin resistance. Diabetes [print-electronic]. 2010 Jan; 59(1): 200-9. PMID: 19833879, PMCID: PMC2797922, PII: db09-0700, DOI: 10.2337/db09-0700, ISSN: 1939-327X.

Abarrategui-Garrido C, Martínez-Barricarte R, López-Trascasa M, de Córdoba SR, Sánchez-Corral P. Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome. Blood [print-electronic]. 2009 Nov 11/5/2009; 114(19): 4261-71. PMID: 19745068, PII: S0006-4971(20)38991-6, DOI: 10.1182/blood-2009-05-223834, ISSN: 1528-0020.

Tortajada A, Montes T, Martínez-Barricarte R, Morgan BP, Harris CL, de Córdoba SR. The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity. Hum Mol Genet [print-electronic]. 2009 Sep 9/15/2009; 18(18): 3452-61. PMID: 19549636, PMCID: PMC3272369, PII: ddp289, DOI: 10.1093/hmg/ddp289, ISSN: 1460-2083.

Martínez-Barricarte R, Goicoechea de Jorge E, Montes T, Layana AG, Rodríguez de Córdoba S. Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population. Clin Exp Immunol. 2009 Jan; 155(1): 59-64. PMID: 19076829, PMCID: PMC2665680, PII: CEI3798, DOI: 10.1111/j.1365-2249.2008.03798.x, ISSN: 1365-2249.

Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Fremeaux-Bacchi V, Skerka C, Zipfel PF, Goodship T, Noris M, Remuzzi G, de Cordoba SR, . The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome. J Am Soc Nephrol [print-electronic]. 2008 Mar; 19(3): 639-46. PMID: 18235085, PMCID: PMC2391060, PII: ASN.2007080923, DOI: 10.1681/ASN.2007080923, ISSN: 1533-3450.

Pickering MC, de Jorge EG, Martinez-Barricarte R, Recalde S, Garcia-Layana A, Rose KL, Moss J, Walport MJ, Cook HT, de Córdoba SR, Botto M. Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains. J Exp Med [print-electronic]. 2007 Jun 6/11/2007; 204(6): 1249-56. PMID: 17517971, PMCID: PMC2118613, PII: jem.20070301, DOI: 10.1084/jem.20070301, ISSN: 0022-1007.