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1
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency
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ADA-deficient SCID is associated with a specific microenvironment and bone phenotype characterized by RANKL/OPG imbalance and osteoblast insufficiency

Aisha V. Sauer Emanuela Mrak; Raisa Jofra Hernandez; Elena Zacchi; Francesco Cavani; Miriam Casiraghi; Eyal Grunebaum; Chaim M Roifman; Maria Célia Cervi; Alessandro Ambrosi; Filippo Carlucci; Maria grazia Roncarolo; Anna Villa; Alessandro Rubinacci; Alessandro Aiuti

Blood Washington v. 114, n. 15, p. 3216-3226, 2009

Washington 2009

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 1798771 )(Acessar)

2
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
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Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

Maria Teresa de la Morena David Leonard; Troy R Torgerson; Otavio Cabral Marques; Mary Anne Slatter; Asghar Aghamohammadi; Sharat Chandra; Luis Murguia Favela; Francisco A Bonilla; Maria Kanariou; Rongras Damrongwatanasuk; Caroline Y Kuo; Christopher C Dvorak; Isabelle Meyts; Karin Chen; Lisa Kobrynski; Neena Kapoor; Darko Richter; Daniela DiGiovanni; Fatima Dhalla; Evangelia Farmaki; Carsten Speckmann; Teresa Español; Anna YU Shcherbina; Imelda Celine Guerra Hanson; Jiri Litzman; John M Routes; Melanie Wong; Ramsay Fuleihan; Suranjith L Seneviratne; Trudy N Small; Ales Janda; Liliana Bezrodnik; Reinhard Seger; Andrea Gomez Raccio; John David M Edgar; Janet Chou; Jordan Keith Abbott; Joris van Montfrans; Luis Ignacio González Granado; Nancy Bunin; Necil Kutukculer; Paul Gray; Gisela Seminario; Srdjan Pasic; Victor Aquino; Christian Wysocki; Hassan Abolhassani; Morna Dorsey; Charlotte Cunningham Rundles; Alan Paul Knutsen; John William Sleasman; Beatriz Tavares Costa Carvalho; Antonio Condino-Neto; Eyal Grunebaum; Helen Chapel; Hans Dieter Ochs; Alexandra Hult Filipovich; Mort Cowan; Andrew Gennery; Andrew James Cant; Luigi D Notarangelo; Chaim M Roifman

Journal of Allergy and Clinical Immunology v. 139, n. 4, p. 1282-1292, 2017

Philadelphia 2017

Localização: ICB - Inst. Ciências Biomédicas    (PC ICB BMI SEP 2017 )(Acessar)

3
Pediatric immunology
Pediatric immunology
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Pediatric immunology

Z Spirer; C. M Roifman (Chaim M.); D Branski

Basel New York Karger c1993

Localização: ICB - Inst. Ciências Biomédicas    (WD300 P371 1993 v.3 )(Acessar)

4
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency
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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

Jolan E. Walter Lindsey B Rosen; Krisztian Csomos; Jacob M Rosenberg; Divij Mathew; Marton Keszei; Boglarka Ujhazi; Karin Chen; Yu Nee Lee; Irit Tirosh; Kerry Dobbs; Waleed Al-Herz; Morton J Cowan; Jennifer Puck; Jack J Blessing; Michael S Grimley; Harry Malech; Suk See De Ravin; Andrew R Gennery; Roshini S Abraham; Avni Y Joshi; Thomas G Boyce; Manish J Butte; Kari C Nadeau; Imelda Balboni; Kathleen E Sullivan; Javeed Akhter; Mehdi Adeli; Reem A El-Feky; Dalia H El-Ghoneimy; Ghassan Dbaibo; Rima Wakim; Chiara Azzari; Paolo Palma; Caterina Cancrini; Kelly Capuder; Antonio Condino-Neto; Beatriz Tavares Costa-Carvalho; João Bosco Oliveira; Chaim Roifman; David Buchbinder; Attila Kumanovics; Jose Luis Franco; Tim Niehues; Catharina Schuetz; Taco Kuijpers; Christina Yee; Janet Chou; Michel J Masaad; Raif Geha; Gulbu Uzel; Rebecca Gelman; Steven M Holland; Mike Recher; Paul J Utz; Sarah K Browne; Luigi D Notarangelo

Journal of Clinical Investigation Ann Arbor v. 125, n. 11, p. 4135-4148, 2015

Ann Arbor 2015

Localização: ICB - Inst. Ciências Biomédicas    (PC ICB BMI SEP 2015 )(Acessar)

5
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
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Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)

Dadi, Harjit ; Jones, Tyler A. ; Merico, Daniele ; Sharfe, Nigel ; Ovadia, Adi ; Schejter, Yael ; Reid, Brenda ; Sun, Mark ; Vong, Linda ; Atkinson, Adelle ; Lavi, Sasson ; Pomerantz, Joel L. ; Roifman, Chaim M.

Journal of allergy and clinical immunology, 2018-05, Vol.141 (5), p.1818-1830.e2 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
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Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease

Kahr, Walter H A ; Pluthero, Fred G ; Elkadri, Abdul ; Warner, Neil ; Drobac, Marko ; Chen, Chang Hua ; Lo, Richard W ; Li, Ling ; Li, Ren ; Li, Qi ; Thoeni, Cornelia ; Pan, Jie ; Leung, Gabriella ; Lara-Corrales, Irene ; Murchie, Ryan ; Cutz, Ernest ; Laxer, Ronald M ; Upton, Julia ; Roifman, Chaim M ; Yeung, Rae S M ; Brumell, John H ; Muise, Aleixo M

Nature communications, 2017-04, Vol.8 (1), p.14816-14816, Article 14816 [Periódico revisado por pares]

England: Nature Publishing Group

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7
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency
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Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency

Grunebaum, Eyal, MD ; Cutz, Ernest, MD ; Roifman, Chaim M., MD

Journal of allergy and clinical immunology, 2012-06, Vol.129 (6), p.1588-1593 [Periódico revisado por pares]

New York, NY: Elsevier Inc

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8
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
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Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing

Merico, Daniele ; Roifman, Maian ; Braunschweig, Ulrich ; Yuen, Ryan K C ; Alexandrova, Roumiana ; Bates, Andrea ; Reid, Brenda ; Nalpathamkalam, Thomas ; Wang, Zhuozhi ; Thiruvahindrapuram, Bhooma ; Gray, Paul ; Kakakios, Alyson ; Peake, Jane ; Hogarth, Stephanie ; Manson, David ; Buncic, Raymond ; Pereira, Sergio L ; Herbrick, Jo-Anne ; Blencowe, Benjamin J ; Roifman, Chaim M ; Scherer, Stephen W

Nature communications, 2015-11, Vol.6 (1), p.8718-8718, Article 8718 [Periódico revisado por pares]

England: Nature Publishing Group

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9
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice
The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice
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The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free mice

Scott, Ori ; Visuvanathan, Shagana ; Reddy, Emily ; Mahamed, Deeqa ; Gu, Bin ; Roifman, Chaim M ; Cohn, Ronald D ; Guidos, Cynthia J ; Ivakine, Evgueni A

Frontiers in immunology, 2023-05, Vol.14, p.1183273-1183273 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
Omenn syndrome: Inflammation in leaky severe combined immunodeficiency
Omenn syndrome: Inflammation in leaky severe combined immunodeficiency
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Omenn syndrome: Inflammation in leaky severe combined immunodeficiency

Villa, Anna, MD ; Notarangelo, Luigi D., MD ; Roifman, Chaim M., MD, FRCPC

Journal of allergy and clinical immunology, 2008-12, Vol.122 (6), p.1082-1086 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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Deste Autor:

  1. Roifman, C
  2. Notarangelo, L
  3. Condino Neto, A
  4. Chen, K
  5. Cowan, M

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Immunology
  5. Biological And Medical Sciences

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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