Chaim M Roifman

Chaim M Roifman

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Chaim M Roifman

Publications by authors named "Chaim M Roifman"

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Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency.

J Allergy Clin Immunol 2020 Mar 26;145(3):1011-1015.e6. Epub 2019 Nov 26.

Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, the Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Department of Paediatrics, the Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.015DOI Listing
March 2020

Time-dependent decline of T-cell receptor excision circle levels in ZAP-70 deficiency.

J Allergy Clin Immunol Pract 2020 Feb 23;8(2):806-808.e2. Epub 2019 Aug 23.

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.08.018DOI Listing
February 2020

Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy.

Clin Immunol 2020 Feb 5;211:108321. Epub 2019 Dec 5.

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, ON, Canada; University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.108321DOI Listing
February 2020

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated with Monogenic Variants, Identified by Whole-exome Sequencing in 1000 Children at a Single Center.

Gastroenterology 2020 Feb 18. Epub 2020 Feb 18.

SickKids Inflammatory Bowel Disease Center, The Hospital for Sick Children, Toronto, ON, Canada; Cell Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Department of Pediatrics, Institute of Medical Science and Biochemistry, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2020.02.023DOI Listing
February 2020

Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience.

Front Immunol 2019 20;10:2940. Epub 2019 Dec 20.

Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.

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http://dx.doi.org/10.3389/fimmu.2019.02940DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6932992PMC
December 2019

NF-κB pathway and the Goldilocks principle: Lessons from human disorders of immunity and inflammation.

J Allergy Clin Immunol 2019 May 30;143(5):1688-1701. Epub 2019 Mar 30.

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.03.016DOI Listing
May 2019

Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features.

J Allergy Clin Immunol 2018 08 26;142(2):618-629. Epub 2017 Nov 26.

Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology & Allergy, Department of Pediatrics, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173181
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http://dx.doi.org/10.1016/j.jaci.2017.10.033DOI Listing
August 2018

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression.

NPJ Genom Med 2018 20;3:23. Epub 2018 Aug 20.

1Division of Immunology and Allergy, Department of Paediatrics, The Hospital for Sick Children and The University of Toronto, Toronto, ON Canada.

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http://dx.doi.org/10.1038/s41525-018-0063-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6102291PMC
August 2018

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

J Allergy Clin Immunol 2018 05 19;141(5):1818-1830.e2. Epub 2017 Aug 19.

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.06.047DOI Listing
May 2018

Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency.

J Allergy Clin Immunol 2018 03 8;141(3):1154-1157.e3. Epub 2017 Nov 8.

Division of Immunology & Allergy, Department of Paediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Canadian Centre for Primary Immunodeficiency, Toronto, Ontario, Canada; University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749173173
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http://dx.doi.org/10.1016/j.jaci.2017.10.015DOI Listing
March 2018

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

CMAJ 2017 12;189(50):E1551-E1557

Department of Pediatrics (Biggs, Turvey), British Columbia Children's Hospital, University of British Columbia, Vancouver, BC; Departments of Pediatrics, and Microbiology, Infection and Immunology (Haddad), University of Montreal, CHU Sainte-Justine, Montréal, Que.; Department of Pediatrics (Issekutz), IWK Health Centre, Dalhousie University, Halifax, NS; Division of Immunology and Allergy (Roifman), Hospital for Sick Children; Department of Pediatrics (Roifman), University of Toronto, Toronto, Ont.

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http://dx.doi.org/10.1503/cmaj.170561DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5738248PMC
December 2017

Hematopoietic stem cell transplantation for RelB deficiency.

J Allergy Clin Immunol 2017 10 26;140(4):1199-1201.e3. Epub 2017 May 26.

Division of Immunology and Allergy, Department of Paediatrics, the Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada; Canadian Centre for Primary Immunodeficiency and the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, the Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2017.05.007DOI Listing
October 2017

A homozygous mutation in the stem II domain of causes typical Roifman syndrome.

NPJ Genom Med 2017 10;2:23. Epub 2017 Jul 10.

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, ON Canada.

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http://dx.doi.org/10.1038/s41525-017-0024-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5677950PMC
July 2017

Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency.

J Allergy Clin Immunol 2016 08 6;138(2):612-615.e1. Epub 2016 Apr 6.

Division of Immunology and Allergy, Department of Pediatrics, Toronto, Ontario, Canada; Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2016.02.009DOI Listing
August 2016

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.

Gastroenterology 2016 05 4;150(5):1196-1207. Epub 2016 Feb 4.

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00165085160012
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http://dx.doi.org/10.1053/j.gastro.2016.01.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4842103PMC
May 2016

The effects of RelB deficiency on lymphocyte development and function.

J Autoimmun 2015 Dec 15;65:90-100. Epub 2015 Sep 15.

The Canadian Centre for Primary Immunodeficiency, Immunogenomic Laboratory, Division of Immunology/Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, 555 University Ave., Toronto, On M5G 1X8, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2015.09.001DOI Listing
December 2015

Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.

Cell Mol Gastroenterol Hepatol 2015 Jul;1(4):381-394.e7

SickKids Inflammatory Bowel Disease Center and Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, ON, Canada ; Division of Gastroenterology, Hepatology, and Nutrition, Department of Pediatrics, University of Toronto, Hospital for Sick Children, Toronto, ON, Canada ; Institute of Medical Science, University of Toronto, Toronto, ON, Canada ; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.

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https://linkinghub.elsevier.com/retrieve/pii/S2352345X150009
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http://dx.doi.org/10.1016/j.jcmgh.2015.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507283PMC
July 2015

Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.

Eur J Immunol 2014 Oct 28;44(10):3129-40. Epub 2014 Aug 28.

Center for Chronic Immunodeficiency (CCI), University Medical Center and University of Freiburg, Freiburg, Germany; Faculty of Biology, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1002/eji.201444689DOI Listing
October 2014

Pulmonary alveolar proteinosis in adenosine deaminase-deficient mice.

J Allergy Clin Immunol 2014 May 15;133(5):1467-71, 1471.e1-4. Epub 2014 Jan 15.

Developmental & Stem Cell Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada; Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.11.029DOI Listing
May 2014

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1.

J Allergy Clin Immunol 2014 Mar 13;133(3):807-17. Epub 2013 Nov 13.

Division of Immunology and Allergy, the Canadian Centre for Primary Immunodeficiency, the Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, the Hospital for Sick Children and the University of Toronto, Toronto, Canada; Canada-Israel Immunodeficiency Research Alliance, Toronto, Ontario, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.09.032DOI Listing
March 2014

Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.

Curr Opin Allergy Clin Immunol 2013 Dec;13(6):630-8

Division of Immunology and Allergy, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1097/ACI.0000000000000006DOI Listing
December 2013

Skeletal abnormalities and successful hematopoietic stem cell transplantation in patients with reticular dysgenesis.

J Allergy Clin Immunol 2013 Oct 12;132(4):993-6. Epub 2013 Jun 12.

Immunology and Allergy, Pediatric Department, King Abdulaziz Medical City-WR, Jeddah, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.04.055DOI Listing
October 2013

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.

Neurobiol Dis 2012 Aug 11;47(2):201-9. Epub 2012 Apr 11.

Program in Developmental and Stem Cell Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.nbd.2012.04.001DOI Listing
August 2012

Defining combined immunodeficiency.

J Allergy Clin Immunol 2012 Jul 2;130(1):177-83. Epub 2012 Jun 2.

Division of Immunology and Allergy, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2012.04.029DOI Listing
July 2012

Pulmonary alveolar proteinosis in patients with adenosine deaminase deficiency.

J Allergy Clin Immunol 2012 Jun 10;129(6):1588-93. Epub 2012 Mar 10.

Division of Allergy and Clinical Immunology, Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2012.02.003DOI Listing
June 2012

The biological significance of TLR3 variant, L412F, in conferring susceptibility to cutaneous candidiasis, CMV and autoimmunity.

Autoimmun Rev 2012 Mar 17;11(5):341-7. Epub 2011 Oct 17.

Division of Immunology & Allergy, Canadian Centre for Primary Immunodeficiency, Department of Pediatrics, The Hospital for Sick Children & The University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.autrev.2011.10.007DOI Listing
March 2012

Hematopoietic stem cell transplantation for CD3δ deficiency.

J Allergy Clin Immunol 2011 Nov 16;128(5):1050-7. Epub 2011 Jul 16.

Canadian Centre for Primary Immunodeficiency, Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2011.05.031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4490832PMC
November 2011

Increased resting energy expenditure is associated with failure to thrive in infants with severe combined immunodeficiency.

J Pediatr 2011 Oct 17;159(4):628-32.e1. Epub 2011 May 17.

Division of Immunology and Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2011.03.041DOI Listing
October 2011

Effects of purine nucleoside phosphorylase deficiency on thymocyte development.

J Allergy Clin Immunol 2011 Oct 25;128(4):854-863.e1. Epub 2011 Aug 25.

Developmental and Stem Cell Biology Program, Research Institute, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2011.07.039DOI Listing
October 2011

Early versus delayed diagnosis of SCID: triumph versus tragedy.

Clin Immunol 2011 Jun 14;139(3):360-2. Epub 2011 Apr 14.

Department of Pediatrics, Baylor College of Medicine & Section of Allergy and Immunology, Texas Children's Hospital, 1102 Bates, Suite 330, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.clim.2011.03.010DOI Listing
June 2011

Diffuse large B-cell lymphoma as presenting feature of Zap-70 deficiency.

J Allergy Clin Immunol 2011 Feb 20;127(2):517-20. Epub 2010 Nov 20.

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http://dx.doi.org/10.1016/j.jaci.2010.09.016DOI Listing
February 2011

Bone marrow transplantation using HLA-matched unrelated donors for patients suffering from severe combined immunodeficiency.

Hematol Oncol Clin North Am 2011 Feb;25(1):63-73

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.hoc.2010.11.005DOI Listing
February 2011

Characterization of ζ-associated protein, 70 kd (ZAP70)-deficient human lymphocytes.

J Allergy Clin Immunol 2010 Dec;126(6):1226-33.e1

Division of Immunology and Allergy, Canadian Centre for Primary Immunodeficiency, Jeffrey Modell Research Laboratory for the diagnosis of Primary Immunodeficiency, Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2010.07.029DOI Listing
December 2010

Each condition should be carefully studied, ideally with homogenous patient groups. Preface.

Authors:
Chaim M Roifman

Immunol Allergy Clin North Am 2010 May;30(2):xi

Division of Immunology and Allergy, Department of Pediatrics, The University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2010.03.002DOI Listing
May 2010

Hematopoietic stem cell transplantation for profound T-cell deficiency (combined immunodeficiency).

Authors:
Chaim M Roifman

Immunol Allergy Clin North Am 2010 May;30(2):209-19

Division of Immunology/Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2010.03.001DOI Listing
May 2010

Indications for hemopoietic stem cell transplantation.

Immunol Allergy Clin North Am 2010 May;30(2):261-2

Division of Immunology & Allergy, The Canadian Centre for Primary Immunodeficiency, The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2010.03.004DOI Listing
May 2010

Preface.

Authors:
Chaim M Roifman

Immunol Allergy Clin North Am 2010 Feb;30(1):xiii-xiv

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2009.12.002DOI Listing
February 2010

Bone marrow transplantation using HLA-matched unrelated donors for patients suffering from severe combined immunodeficiency.

Immunol Allergy Clin North Am 2010 Feb;30(1):63-73

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2009.11.001DOI Listing
February 2010

EdU incorporation is an alternative non-radioactive assay to [(3)H]thymidine uptake for in vitro measurement of mice T-cell proliferations.

J Immunol Methods 2009 Oct 30;350(1-2):29-35. Epub 2009 Jul 30.

The Division of Allergy and Clinical Immunology and Developmental and Stem Cell Biology Program, The Hospital for Sick Children, 555 University Ave., Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.jim.2009.07.008DOI Listing
October 2009

Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells.

J Allergy Clin Immunol 2009 Oct 19;124(4):793-800. Epub 2009 Sep 19.

Cancer Research Center, Safra Children's Hospital, Sheba Medical Center, Tel Hashomer and Sackler School of Medicine, Tel Aviv, Israel.

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http://dx.doi.org/10.1016/j.jaci.2009.06.048DOI Listing
October 2009

Matched unrelated bone marrow transplant for Omenn syndrome.

Immunol Res 2009 ;44(1-3):25-34

The Canadian Centre for Primary Immunodeficiency, Toronto, ON, Canada.

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http://dx.doi.org/10.1007/s12026-008-8067-4DOI Listing
September 2009

Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations.

J Allergy Clin Immunol 2008 Dec 19;122(6):1178-84. Epub 2008 Sep 19.

Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490801372
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http://dx.doi.org/10.1016/j.jaci.2008.07.036DOI Listing
December 2008

Omenn syndrome is associated with mutations in DNA ligase IV.

J Allergy Clin Immunol 2008 Dec 9;122(6):1219-20. Epub 2008 Oct 9.

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http://dx.doi.org/10.1016/j.jaci.2008.08.031DOI Listing
December 2008

Lentivirus gene therapy for purine nucleoside phosphorylase deficiency.

J Gene Med 2008 Dec;10(12):1282-93

Division of Allergy and Clinical Immunology, Research Institute, Hospital for Sick Children, Toronto, Canada.

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http://dx.doi.org/10.1002/jgm.1261DOI Listing
December 2008

Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype.

Curr Opin Allergy Clin Immunol 2008 Dec;8(6):534-9

Division of Immunology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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http://dx.doi.org/10.1097/ACI.0b013e328310fe7dDOI Listing
December 2008

Omenn syndrome: inflammation in leaky severe combined immunodeficiency.

J Allergy Clin Immunol 2008 Dec 6;122(6):1082-6. Epub 2008 Nov 6.

Istituto Tecnologie Biomediche, Consiglio Nazionale delle Ricerche, San Raffaele Telethon Institute for Gene Therapy, Milan, Italy.

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http://linkinghub.elsevier.com/retrieve/pii/S009167490801734
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http://dx.doi.org/10.1016/j.jaci.2008.09.037DOI Listing
December 2008

Intravenous immunoglobulin treatment of immunodeficiency. Preface.

Authors:
Chaim M Roifman

Immunol Allergy Clin North Am 2008 Nov;28(4):xv-xvi

Division of Immunology and Allergy, Department of Pediatrics, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.iac.2008.08.002DOI Listing
November 2008

Economic assessment of different modalities of immunoglobulin replacement therapy.

Immunol Allergy Clin North Am 2008 Nov;28(4):861-74, x

Canadian Agency for Drugs and Technologies in Health (CADTH), 600-865 Carling Avenue, Ottawa, ON, Canada K1S 5S8.

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http://dx.doi.org/10.1016/j.iac.2008.06.008DOI Listing
November 2008

Management of primary antibody deficiency with replacement therapy: summary of guidelines.

Immunol Allergy Clin North Am 2008 Nov;28(4):875-6, x

Division of Immunology and Allergy, Department of Paediatrics, The Research Institute of Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, Canada M5G 1X8.

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http://linkinghub.elsevier.com/retrieve/pii/S088985610800078
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http://dx.doi.org/10.1016/j.iac.2008.07.003DOI Listing
November 2008

Adenosine deaminase deficiency can present with features of Omenn syndrome.

J Allergy Clin Immunol 2008 Apr 19;121(4):1056-8. Epub 2008 Feb 19.

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http://dx.doi.org/10.1016/j.jaci.2007.12.1148DOI Listing
April 2008

EphA and ephrin-A proteins regulate integrin-mediated T lymphocyte interactions.

Mol Immunol 2008 Mar 5;45(5):1208-20. Epub 2007 Nov 5.

Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1016/j.molimm.2007.09.019DOI Listing
March 2008

Cardiac chamber hypertrophy following hematopoietic stem cell transplantation for primary immunodeficiency.

Biol Blood Marrow Transplant 2008 Feb;14(2):229-35

Division of Immunology/Allergy, Blood and Marrow Transplant Unit, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1016/j.bbmt.2007.10.027DOI Listing
February 2008

Matched unrelated bone marrow transplant for severe combined immunodeficiency.

Immunol Res 2007 ;38(1-3):191-200

Division of Immunology and Allergy and Infection, Immunity, Injury and Repair Program, The Canadian Centre for Primary Immunodeficiency, The Hospital for Sick Children and The University of Toronto, Toronto, ON, M5G 1X8, Canada.

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http://dx.doi.org/10.1007/s12026-007-0042-yDOI Listing
January 2008

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome.

Am J Med Genet A 2008 Jan;146A(1):8-14

Department of Pediatrics, The Canadian Centre for Primary Immunodeficiency, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1002/ajmg.a.32014DOI Listing
January 2008

Low serum immunoglobulin G2 levels in infancy can be transient.

Pediatrics 2007 Sep 6;120(3):e543-7. Epub 2007 Aug 6.

Division of Immunology and Allergy, Canadian Centre for Primary Immunodeficiency, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8.

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http://dx.doi.org/10.1542/peds.2006-3613DOI Listing
September 2007

Neurologic abnormalities in patients with adenosine deaminase deficiency.

Pediatr Neurol 2007 Sep;37(3):218-21

Division of Immunology & Allergy, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.pediatrneurol.2007.03.011DOI Listing
September 2007

Burkitt's lymphoma in a patient with adenosine deaminase deficiency-severe combined immunodeficiency treated with polyethylene glycol-adenosine deaminase.

J Pediatr 2007 Jul;151(1):93-5

Division of Immunology/Allergy, The Hospital for Sick Children and The University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2007.03.059DOI Listing
July 2007

Human T cell immunodeficiency: when signal transduction goes wrong.

Immunol Res 2006 ;35(1-2):117-26

Division of Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1385/ir:35:1:117DOI Listing
October 2006

IL-2 receptor alpha deficiency and features of primary biliary cirrhosis.

J Autoimmun 2006 Aug 10;27(1):50-3. Epub 2006 Aug 10.

Division of Gastroenterology, University of California at Davis, 95616, USA.

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http://dx.doi.org/10.1016/j.jaut.2006.04.005DOI Listing
August 2006

EphA receptors inhibit anti-CD3-induced apoptosis in thymocytes.

J Immunol 2006 Apr;176(7):4066-74

Department of Chemistry and Biochemistry, University of Regina, Saskatchewan, Canada.

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http://dx.doi.org/10.4049/jimmunol.176.7.4066DOI Listing
April 2006

Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome.

J Allergy Clin Immunol 2006 Apr;117(4):897-903

Division of Immunology and Allergy and Program of Infection, Immunity, Injury and Repair, The Hospital for Sick Children and The University of Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jaci.2006.01.003DOI Listing
April 2006

Bone marrow transplantation for severe combined immune deficiency.

JAMA 2006 Feb;295(5):508-18

Division of Immunology/Allergy, Department of Paediatrics, Research Institute, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.295.5.508DOI Listing
February 2006

Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home.

J Clin Immunol 2006 Jan;26(1):65-72

Section of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Stockholm, Sweden.

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http://dx.doi.org/10.1007/s10875-006-8905-xDOI Listing
January 2006

Mutation analysis should be performed to rule out gammac deficiency in children with functional severe combined immune deficiency despite apparently normal immunologic tests.

J Pediatr 2005 Oct;147(4):555-7

Division of Immunology/Allergy and the Infection, Immunity, Injury and Repair Program, The Research Institute and The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2005.05.010DOI Listing
October 2005

Novel RAG1 mutation in a case of severe combined immunodeficiency.

Pediatrics 2005 Sep 1;116(3):e445-9. Epub 2005 Aug 1.

Division of Immunology and Allergy, Hospital for Sick Children, University of Toronto, Toronto, Canada.

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http://dx.doi.org/10.1542/peds.2005-0369DOI Listing
September 2005

Severe combined immunodeficiency caused by a splicing abnormality of the CD3delta gene.

Eur J Pediatr 2005 May 24;164(5):311-4. Epub 2005 Feb 24.

Department of Paediatrics, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, 812-8582 Higashi-ku, Fukuoka, Japan.

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http://dx.doi.org/10.1007/s00431-005-1639-6DOI Listing
May 2005

Studies of patients' thymi aid in the discovery and characterization of immunodeficiency in humans.

Authors:
Chaim M Roifman

Immunol Rev 2005 Feb;203:143-55

Division of Immunology and Allergy, and Program of Infection, Immunity, Injury and Repair, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/j.0105-2896.2005.00236.xDOI Listing
February 2005

CD3 delta immunodeficiency.

Authors:
Chaim M Roifman

Curr Opin Allergy Clin Immunol 2004 Dec;4(6):479-84

Division of Immunology and Allergy, and Program of Infection, Immunity, Injury and Repair, The Hospital for Sick Children and The University of Toronto, Ontario M5G 1X8, Canada.

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http://dx.doi.org/10.1097/00130832-200412000-00002DOI Listing
December 2004

Signals find their target: drug design and diagnosis based on intracellular signalling.

Authors:
Chaim M Roifman

Clin Invest Med 2004 Oct;27(5):282-4

Division of Immunology and Allergy, Program of Infection, Immunity, Injury and Repair, The Hospital for Sick Children, the University of Toronto, Toronto, Ont.

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October 2004

Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency.

Nucleosides Nucleotides Nucleic Acids 2004 Oct;23(8-9):1411-5

Division of Clinical Immunology and Allergy, Infection, Immunity, Injury and Repair Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1081/NCN-200027647DOI Listing
October 2004

Tyrenes: synthesis of new antiproliferative compounds with an extended conjugation.

Bioorg Med Chem 2004 Jun;12(11):3019-26

Division of Immunology and Allergy, Infection, Immunity, Injury and Repair Program, Research Institute, and The Hospital for Sick Children and University of Toronto, Toronto, Canada M5G 1X8.

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http://dx.doi.org/10.1016/j.bmc.2004.03.043DOI Listing
June 2004