Publications by authors named "Matias Oleastro"

40Publications

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections.

J Clin Immunol 2020 02 15;40(2):359-366. Epub 2020 Jan 15.

Mycology Unit of the Infectious Diseases Hospital F.J. Muñiz, Reference Center of Mycology of Buenos Aires City, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-019-00740-2DOI Listing
February 2020

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects.

J Clin Immunol 2018 10 9;38(7):745-747. Epub 2018 Oct 9.

Immunology and Rheumatology Department, Hospital de Pediatría "Dr. Juan P. Garrahan", Combate de los Pozos, 1881, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-018-0557-0DOI Listing
October 2018

[Late diagnosis of WHIM sydrome].

Medicina (B Aires) 2018 ;78(2):123-126

Unidad Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.

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February 2019

Noninfectious complications in patients with pediatric-onset common variable immunodeficiency correlated with defects in somatic hypermutation but not in class-switch recombination.

J Allergy Clin Immunol 2017 Mar 3;139(3):913-922. Epub 2016 Oct 3.

Servicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1016/j.jaci.2016.08.030DOI Listing
March 2017

[X-linked agammaglobulinemia in adults. Clinical evolution].

Medicina (B Aires) 2016 ;76(2):65-70

Unidad Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.

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August 2016

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Blood 2016 06 25;127(25):3154-64. Epub 2016 Apr 25.

Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Infectious and Tropical Diseases, Necker-Enfants Malades Hospital, AP-HP, Paris, France.

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http://dx.doi.org/10.1182/blood-2015-11-679902DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920021PMC
June 2016

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

J Allergy Clin Immunol 2016 07 28;138(1):241-248.e3. Epub 2016 Feb 28.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Institut National de la Santé et de la Recherche Médicale, Paris, France; Paris Descartes University, Imagine Institute, Paris, France; Center for the Study of Primary Immunodeficiencies, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, the Rockefeller University, New York, NY. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.11.041DOI Listing
July 2016

A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.

N Engl J Med 2014 Oct;371(15):1407-17

From the Departments of Biotherapy (S.H.-B.-A., J. Blondeau, L.C., F.T., M.C.) and Immunology and Pediatric Hematology (S.B., G.C., D.M., B.N., C.P., F.T., A.F.) and the Centre d'Étude des Déficits Immunitaires (C.P.), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), the Biotherapy Clinical Investigation Center, Groupe Hospitalier Universitaire Ouest, AP-HP, INSERM (S.H.-B.-A., J. Blondeau, L.C., F.T., M.C.), Unité de Technologies Chimiques et Biologiques pour la Santé, Centre National de la Recherche Scientifique, 8258-INSERM Unité 1022, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes (S.H.-B.-A.), Immunology Laboratory, Groupe Hospitalier Universitaire Paris-Sud, AP-HP, Le Kremlin-Bicêtre (S.H.-B.-A.), Imagine Institute, Paris Descartes-Sorbonne Paris Cité University (S.B., J. Blondeau, L.C., D.M., B.N., C.P., E.S., A.F., M.C.), INSERM Unités Mixtes de Recherche 1163, Laboratory of Human Lymphohematopoiesis (J. Blondeau, L.C., E.S., F.T., A.F., M.C.), Groupe Immunoscope, Immunology Department, Institut Pasteur (A.L.), and Collège de France (A.F.) - all in Paris; Division of Hematology-Oncology (S.-Y.P., H.B., D.G., C.E.H., G.H., L.E.L., W.B.L., D.A.W.) and Division of Immunology (L.D.N.), Boston Children's Hospital, Department of Pediatric Oncology, Dana-Farber Cancer Institute (S.-Y.P., D.G., L.E.L., W.B.L., D.A.W.), Harvard Medical School (S.-Y.P., M.A., L.E.L., W.B.L., J.R., L.E.S., A.T., L.D.N., D.A.W.), Center for Human Cell Therapy, Program in Cellular and Molecular Medicine, Boston Children's Hospital (M.A., J.R., L.E.S., A.T.), Division of Hematologic Malignancies, Dana-Farber Cancer Institute (J.R.), and the Manton Center for Orphan Disease Research (L.D.N.) - all in Boston; Great Ormond Street Hospital for Children NHS Foundation Trust (H.B.G., J.X.-B., A.J.T.) and Section of Molecular and Cellular Immunology, University College London Institute of Child Health (H.B.G., K.F.B., A.

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http://dx.doi.org/10.1056/NEJMoa1404588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4274995PMC
October 2014

[Combined immunodeficiency with cutaneous manifestations associated with DOCK8 mutation].

Arch Argent Pediatr 2014 Aug;112(4):e147-51

Division de Inmunología, Hospital General de Niños Pedro de Elizalde, Buenos Aires, Argentina.

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http://dx.doi.org/10.5546/aap.2014.e147DOI Listing
August 2014

Neutrophils suppress γδ T-cell function.

Eur J Immunol 2014 Mar 27;44(3):819-30. Epub 2013 Dec 27.

Instituto de Medicina Experimental (IMEX) CONICET - Academia Nacional de Medicina, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/eji.201343664DOI Listing
March 2014

NADPH oxidase derived reactive oxygen species are involved in human neutrophil IL-1β secretion but not in inflammasome activation.

Eur J Immunol 2013 Dec 10;43(12):3324-35. Epub 2013 Sep 10.

Departamento de Inmunología, Instituto de Medicina Experimental (IMEX)-CONICET, Academia Nacional de Medicina, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/eji.201243089DOI Listing
December 2013

Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination.

Eur J Immunol 2013 Mar 18;43(3):805-14. Epub 2013 Jan 18.

Servicio de Inmunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/eji.201242945DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652653PMC
March 2013

Immunological characteristics and two novel mutations in TACI in a cohort of 28 pediatric patients with common variable immunodeficiency.

J Clin Immunol 2012 Feb 11;32(1):89-97. Epub 2011 Nov 11.

Servicio de Immunología y Reumatología, Hospital Nacional de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina.

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http://link.springer.com/10.1007/s10875-011-9613-8
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http://dx.doi.org/10.1007/s10875-011-9613-8DOI Listing
February 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

J Exp Med 2011 Aug 4;208(8):1635-48. Epub 2011 Jul 4.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Necker Medical School, Institut National de la Santé et de la Recherche Médicale U980 and University Paris Descartes, 75015 Paris, France.

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http://dx.doi.org/10.1084/jem.20110958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3149226PMC
August 2011

Autoimmune hepatitis type 2 in a child with IPEX syndrome.

J Pediatr Gastroenterol Nutr 2011 Dec;53(6):690-3

Division of Hepatology and Gastroenterology, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/MPG.0b013e3182250651DOI Listing
December 2011

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.

Authors:
Ludovic de Beaucoudrey Arina Samarina Jacinta Bustamante Aurélie Cobat Stéphanie Boisson-Dupuis Jacqueline Feinberg Saleh Al-Muhsen Lucile Jannière Yoann Rose Maylis de Suremain Xiao-Fei Kong Orchidée Filipe-Santos Ariane Chapgier Capucine Picard Alain Fischer Figen Dogu Aydan Ikinciogullari Gonul Tanir Sami Al-Hajjar Suliman Al-Jumaah Husn H Frayha Zobaida AlSum Sulaiman Al-Ajaji Abdullah Alangari Abdulaziz Al-Ghonaium Parisa Adimi Davood Mansouri Imen Ben-Mustapha Judith Yancoski Ben-Zion Garty Carlos Rodriguez-Gallego Isabel Caragol Necil Kutukculer Dinakantha S Kumararatne Smita Patel Rainer Doffinger Andrew Exley Olle Jeppsson Janine Reichenbach David Nadal Yaryna Boyko Barbara Pietrucha Suzanne Anderson Michael Levin Liliane Schandené Kinda Schepers André Efira Françoise Mascart Masao Matsuoka Tatsunori Sakai Claire-Anne Siegrist Klara Frecerova Renate Blüetters-Sawatzki Jutta Bernhöft Joachim Freihorst Ulrich Baumann Darko Richter Filomeen Haerynck Frans De Baets Vas Novelli David Lammas Christiane Vermylen David Tuerlinckx Chris Nieuwhof Malgorzata Pac Walther H Haas Ingrid Müller-Fleckenstein Bernhard Fleckenstein Jacob Levy Revathi Raj Aileen Cleary Cohen David B Lewis Steven M Holland Kuender D Yang Xiaochuan Wang Xiaohong Wang Liping Jiang Xiqiang Yang Chaomin Zhu Yuanyuan Xie Pamela Pui Wah Lee Koon Wing Chan Tong-Xin Chen Gabriela Castro Ivelisse Natera Ana Codoceo Alejandra King Liliana Bezrodnik Daniela Di Giovani Maria Isabel Gaillard Dewton de Moraes-Vasconcelos Anete Sevciovic Grumach Alberto Jose da Silva Duarte Ruth Aldana Francisco Javier Espinosa-Rosales Mohammed Bejaoui Ahmed Aziz Bousfiha Jamila El Baghdadi Namik Ozbek Guzide Aksu Melike Keser Ayper Somer Nevin Hatipoglu Cigdem Aydogmus Suna Asilsoy Yildiz Camcioglu Saniye Gülle Tuba T Ozgur Meteran Ozen Matias Oleastro Andrea Bernasconi Setareh Mamishi Nima Parvaneh Sergio Rosenzweig Ridha Barbouche Sigifredo Pedraza Yu Lung Lau Mohammad S Ehlayel Claire Fieschi Laurent Abel Ozden Sanal Jean-Laurent Casanova

Medicine (Baltimore) 2010 Nov;89(6):381-402

Laboratory of Human Genetics of Infectious Diseases U980, Institut National de la Santé et de la Recherche Médicale, Paris, France.

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http://dx.doi.org/10.1097/MD.0b013e3181fdd832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129625PMC
November 2010

Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.

J Clin Immunol 2009 Jan 2;29(1):123-9. Epub 2008 Aug 2.

Servicio de Inmunología, Hospital de Pediatría Juan P Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-008-9227-yDOI Listing
January 2009

Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.

J Clin Immunol 2007 Jul 11;27(4):455-9. Epub 2007 Mar 11.

Immunology Unit, Hospital de Pediatría Juan P Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1007/s10875-007-9089-8DOI Listing
July 2007

X-Linked Chronic Granulomatous Disease: First Report of Mutations in Patients of Argentina.

J Pediatr Hematol Oncol 2004 Oct;26(10):656-660

From the *Division of Immunology, Hospital de Niños "Dr. Ricardo Gutiérrez," Buenos Aires, Argentina (associated hospital to the University of Buenos Aires); †Laboratorio de Secuenciación, Centro de Investigaciones Agropecuarias, INTA-Castelar; ‡Universidad CAECE de Buenos Aires, Buenos Aires, Argentina; and §Division of Immunology, Hospital de Pediatría "Dr J. P. Garrahan," Buenos Aires, Argentina.

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http://dx.doi.org/10.1097/01.mph.0000139455.29962.beDOI Listing
October 2004

X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.

J Pediatr Hematol Oncol 2004 Oct;26(10):656-60

Division of Immunology, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.

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October 2004

Bruton tyrosine kinase gene mutations in Argentina.

Hum Mutat 2003 Apr;21(4):451

Molecular Biology Laboratory, Hospital Nacional de Pediatria J.P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/humu.9131DOI Listing
April 2003

Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.

Hum Mutat 2002 Feb;19(2):186-7

Molecular Biology Laboratory, Hospital Nacional de Pediatria "J.P Garrahan", Buenos Aires, Argentina.

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http://dx.doi.org/10.1002/humu.9013DOI Listing
February 2002