New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy - 04/05/18
Doi : 10.1016/j.jaci.2017.12.995
María Bravo García-Morato, BSc a, b 
, Francisco Javier Aracil Santos, MD c, ∗, Alejandro Contreras Briones, BSc d, ∗, Alfonso Blázquez Moreno, BSc e, Ángela del Pozo Maté, BSc f, Ángeles Domínguez-Soto, PhD g, María José Beato Merino, MD h, Lucía del Pino Molina, PhD a, b, Juan Torres Canizales, MD a, b, Ana Victoria Marin, BSc d, Elena Vallespín García, PhD f, Marta Feito Rodríguez, MD, PhD i, Diego Plaza López Sabando, MD j, Anaïs Jiménez-Reinoso, PhD d, Yasmina Mozo del Castillo, MD j, Francisco José Sanz Santaeufemia, MD k, Raúl de Lucas-Laguna, MD i, Paula P. Cárdenas, PhD d, Laura Casamayor Polo, BSc a, María Coronel Díaz, BSc a, Mar Valés-Gómez, PhD e, Ernesto Roldán Santiago, PhD l, Antonio Ferreira Cerdán, MD, PhD a, b, Julián Nevado Blanco, PhD f, Ángel L. Corbí, PhD g, Hugh T. Reyburn, PhD e, José Ramón Regueiro, PhD d, Eduardo López-Granados, MD, PhD a, b, Rebeca Rodríguez Pena, MD, PhD a, b
, Francisco Javier Aracil Santos, MD c, ∗, Alejandro Contreras Briones, BSc d, ∗, Alfonso Blázquez Moreno, BSc e, Ángela del Pozo Maté, BSc f, Ángeles Domínguez-Soto, PhD g, María José Beato Merino, MD h, Lucía del Pino Molina, PhD a, b, Juan Torres Canizales, MD a, b, Ana Victoria Marin, BSc d, Elena Vallespín García, PhD f, Marta Feito Rodríguez, MD, PhD i, Diego Plaza López Sabando, MD j, Anaïs Jiménez-Reinoso, PhD d, Yasmina Mozo del Castillo, MD j, Francisco José Sanz Santaeufemia, MD k, Raúl de Lucas-Laguna, MD i, Paula P. Cárdenas, PhD d, Laura Casamayor Polo, BSc a, María Coronel Díaz, BSc a, Mar Valés-Gómez, PhD e, Ernesto Roldán Santiago, PhD l, Antonio Ferreira Cerdán, MD, PhD a, b, Julián Nevado Blanco, PhD f, Ángel L. Corbí, PhD g, Hugh T. Reyburn, PhD e, José Ramón Regueiro, PhD d, Eduardo López-Granados, MD, PhD a, b, Rebeca Rodríguez Pena, MD, PhD a, b a Department of Immunology, Hospital Universitario La Paz, Madrid, Spain
b Lymphocyte Pathophysiology Group, La Paz Institute of Biomedical Research, IdiPAZ, Madrid, Spain
c Department of Pediatrics, Hospital Universitario La Paz, Madrid, Spain
d Department of Microbiology I (Immunology), School of Medicine, Universidad Complutense de Madrid, 12 de Octubre Health Research Institute (imas12), Madrid, Spain
e Department of Immunology and Oncology, Centro Nacional de Biotecnología-Consejo Superior de Investigaciones Científicas, Madrid, Spain
f Institute of Medical and Molecular Genetics (INGEMM), Centro de Investigaciones Biológicas, CSIC, Madrid, Spain
g Myeloid Cell Laboratory, Centro de Investigaciones Biológicas, CSIC, Madrid, Spain
h Department of Pathologic Anatomy, Hospital Universitario La Paz, Madrid, Spain
i Department of Dermatology, Hospital Universitario La Paz, Madrid, Spain
j Department of Pediatric Hematology/Oncology, Hospital Universitario La Paz, Madrid, Spain
k Department of Pediatrics, Hospital Universitario Niño Jesús, Madrid, Spain
l Department of Immunology, Hospital Universitario Ramón y Cajal, Madrid, Spain
| A.B.M. received a fellowship from the Spanish MINECO (SVP-2014-068263). A.J.-R. was supported by the MINECO (FPI BES-2012-055054). A.V.M. was supported by the Comunidad de Madrid (CAM S2010/BMD-2316) and the Complutense University (CT46/15-Harvard Univ). A.B.C. was supported by the Complutense University (CT28/16). P.C. was supported by the MINECO (152JA19262). This work was supported by grants from the Spanish Association Against Cancer (AECC) and Carlos III Health Institute PI16/01605) to E.L.-G. and the MINECO SAF2014-58752-R to H.T.R., SAF2015-69169-R to M.V.G., and SAF2014-54708-R to J.R.R.). |
|
| Disclosure of potential conflict of interest: A. Blázquez Moreno's institution has received grant funding from MINEICO (SVP-2014-068263). A. del Pozo Maté has received consultancy fees from ENAC and lecture fees from the Health Institute Carlos III. E. Vallespín García has received funds for expert testimony for the Scienceboard.net and royalties from KARYOARRAY-8.512.907. M. Valés-Gómez's institution has received grant funding from MINEICO (SAF2015-69169-R) and Comunidad de Madrid (S2010/BMD-2326). H. T. Reyburn's institution has received a grant from MINEICO (SAF2014-58752-R). The rest of the authors declare that they have no relevant conflicts of interest. |
© 2018
American Academy of Allergy, Asthma & Immunology. Publié par Elsevier Masson SAS. Tous droits réservés.
Vol 141 - N° 5
P. 1924 - mai 2018 Retour au numéro
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