Publications by authors named "Kaan Boztug"

100Publications

Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.

J Clin Immunol 2020 Oct 6. Epub 2020 Oct 6.

Faculty of Medicine, Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10875-020-00878-4DOI Listing
October 2020

A rare case of syndromic severe congenital neutropenia: JAGN1 mutation.

Turk J Pediatr 2020 ;62(2):326-331

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, and Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.24953/turkjped.2020.02.022DOI Listing
January 2020

Supplementation of the ESID registry working definitions for the clinical diagnosis of inborn errors of immunity with encoded human phenotype ontology (HPO) terms.

J Allergy Clin Immunol Pract 2020 May;8(5):1778

Research Unit for Pediatric Hematology and Immunology, Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2020.02.019DOI Listing
May 2020

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

J Allergy Clin Immunol 2020 Oct 9;146(4):901-911. Epub 2020 Apr 9.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; CIBSS (Centre for Integrative Biological Signalling Studies), University of Freiburg, Freiburg, Germany; RESIST - Cluster of Excellence 2155 to Hanover Medical School, Satellite Center Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital and University College London, London, United Kingdom; DZIF (German Center for Infection Research) Satellite Center Freiburg, Freiburg, Germany; Rheumatology and Clinical Immunology, Center for Chronic Immunodeficiency, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.11.051DOI Listing
October 2020

Development of multiple gallstones in a child with lipopolysaccharide-responsive beige-like anchor protein mutation.

Cent Eur J Immunol 2019 30;44(3):332-335. Epub 2019 Sep 30.

Department of Paediatric Immunology and Allergy, Faculty of Medicine, Ondokuz Mayis University, Samsun, Turkey.

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http://dx.doi.org/10.5114/ceji.2019.89613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925566PMC
September 2019

Rheumatological manifestations in inborn errors of immunity.

Pediatr Res 2020 01 3;87(2):293-299. Epub 2019 Oct 3.

Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey.

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http://www.nature.com/articles/s41390-019-0600-8
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http://dx.doi.org/10.1038/s41390-019-0600-8DOI Listing
January 2020

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

J Allergy Clin Immunol Pract 2019 Jul - Aug;7(6):1970-1985.e4. Epub 2019 Mar 12.

University of South Florida and Johns Hopkins All Children's Hospital, Saint Petersburg, Fla; Division of Allergy and Immunology, Massachusetts General Hospital for Children, Boston, Mass. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612449PMC
September 2020

Activating mutations in PIK3CD disrupt the differentiation and function of human and murine CD4 T cells.

J Allergy Clin Immunol 2019 07 6;144(1):236-253. Epub 2019 Feb 6.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, University of New South Wales, Sydney, Australia; Clinical Immunogenomics Research Consortia Australia, Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2019.01.033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612302PMC
July 2019

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature.

Clin Immunol 2018 12 16;197:1-5. Epub 2018 Aug 16.

Hacettepe University Faculty of Medicine, Department of Pediatrics, Division of Immunology, Ankara, Turkey.

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http://dx.doi.org/10.1016/j.clim.2018.08.002DOI Listing
December 2018

EBV-positive B-cell lymphoma manifestation of the liver in an infant with RAG1 severe combined immunodeficiency disease.

Pediatr Blood Cancer 2018 Sep 1;65(9):e27258. Epub 2018 Jun 1.

Department of Pediatric Surgery, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/pbc.27258DOI Listing
September 2018

Activating PIK3CD mutations impair human cytotoxic lymphocyte differentiation and function and EBV immunity.

J Allergy Clin Immunol 2019 01 22;143(1):276-291.e6. Epub 2018 May 22.

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, Australia; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales Sydney, Darlinghurst, Australia; CIRCA (Clinical Immunogenomics Consortia Australia), Sydney, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.030DOI Listing
January 2019

Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.

J Allergy Clin Immunol 2018 11 8;142(5):1589-1604.e11. Epub 2018 May 8.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.04.023DOI Listing
November 2018

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

Gastroenterology 2018 07 29;155(1):130-143.e15. Epub 2018 Mar 29.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria; St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1053/j.gastro.2018.03.040DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6058035PMC
July 2018

Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.

J Clin Immunol 2018 04 21;38(3):273-277. Epub 2018 Mar 21.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-018-0487-xDOI Listing
April 2018

Human NF-κB1 Haploinsufficiency and Epstein-Barr Virus-Induced Disease-Molecular Mechanisms and Consequences.

Front Immunol 2017 18;8:1978. Epub 2018 Jan 18.

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.

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http://dx.doi.org/10.3389/fimmu.2017.01978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778108PMC
January 2018

Thoracic Actinomycosis With Infiltration of the Spine: An Oncological Pitfall.

J Pediatr Hematol Oncol 2018 08;40(6):468-471

Pediatric Hematology and Oncology, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna.

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http://Insights.ovid.com/crossref?an=00043426-201808000-0001
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http://dx.doi.org/10.1097/MPH.0000000000001035DOI Listing
August 2018

Monogenic Diabetes Not Caused By Mutations in Mody Genes: A Very Heterogenous Group of Diabetes.

Exp Clin Endocrinol Diabetes 2018 Nov 28;126(10):612-618. Epub 2017 Nov 28.

Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.

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http://dx.doi.org/10.1055/s-0043-120571DOI Listing
November 2018

Multiple Presentations of LRBA Deficiency: a Single-Center Experience.

J Clin Immunol 2017 Nov 27;37(8):790-800. Epub 2017 Sep 27.

Department of Pediatric Allergy and Immunology, Ankara University School of Medicine, Cebeci, 06590, Ankara, Turkey.

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http://dx.doi.org/10.1007/s10875-017-0446-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7086713PMC
November 2017

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

N Engl J Med 2017 07 28;377(1):52-61. Epub 2017 Jun 28.

From the Section of Molecular Development of the Immune System, Laboratory of Immunology (A.O., W.A.C., A.R.M., H.F.M., M.J.L.), the Clinical Genomics Program (A.O., W.A.C., A.R.M., Y.Z., H.F.M., H.C.S., M.J.L.), and the Human Immunological Diseases Section, Laboratory of Host Defenses (Y.Z., H.C.S.), National Institute of Allergy and Infectious Diseases, the Laboratory of Pathology, National Cancer Institute (S.P.), and Radiology and Imaging Sciences, Clinical Center (L.R.F.), National Institutes of Health, Bethesda, MD; the Department of Pediatrics, Division of Allergy and Immunology (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition (E.T., D.E.), Marmara University, Jeffrey Modell Diagnostic Center for Primary Immunodeficiency Diseases (A.O., E.K.-A., S.B., A. Kiykim, I.O.), and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, İstanbul University Cerrahpaşa Faculty of Medicine (Ö.F.B., T.E.), Istanbul, and the Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Gazi University (B.D., S.S.), the Department of Pediatric Gastroenterology, Hepatology, and Nutrition, Faculty of Medicine, Başkent University (F.O., Z.B., M.G.), and the Pediatric Gastroenterology Clinic, Dr. Sami Ulus Children's Hospital (A.U.A.), Ankara - all in Turkey; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases and the CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (R.C.A., C.D.C., N.K.S., A. Krolo, K.B.), Clinical Institute of Pathology (R.K.), the Department of Pediatrics and Adolescent Medicine (K.B.), and St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics (K.B.), Medical University of Vienna, Vienna; Merck Research Laboratories (J.J.M.), and the Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Harvard Medical School (S.B.S.), Boston; and the Department of Pediatric Gastroenterology, University Medical Center-Wilhelmina Children's Hospital (R.H.J.H.), and the Department of Rheumatology and Clinical Immunology, University Medical Center (H.L.L.), Utrecht, the Netherlands.

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http://dx.doi.org/10.1056/NEJMoa1615887DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6690356PMC
July 2017

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.

Nucleic Acids Res 2017 07;45(W1):W567-W572

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, 1090 Vienna, Austria.

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http://dx.doi.org/10.1093/nar/gkx425DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5570181PMC
July 2017

LPS-Responsive Beige-Like Anchor Gene Mutation Associated With Possible Bronchiolitis Obliterans Organizing Pneumonia Associated With Hypogammaglobulinemia and Normal IgM Phenotype and Low Number of B Cells.

Acta Med Iran 2016 Oct;54(10):620-623

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. AND Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Boston, MA, USA.

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October 2016

Band 3 null , a novel homozygous SLC4A1 p.Ser477X variant causing severe hemolytic anemia, dyserythropoiesis and complete distal renal tubular acidosis.

Pediatr Blood Cancer 2017 03 8;64(3). Epub 2016 Oct 8.

Department of Pediatrics and Adolescent Medicine, St. Anna Children's Hospital, Medical University Vienna, Vienna, Austria.

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http://dx.doi.org/10.1002/pbc.26227DOI Listing
March 2017

Protein Kinase C δ: a Gatekeeper of Immune Homeostasis.

J Clin Immunol 2016 10 19;36(7):631-40. Epub 2016 Aug 19.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14 AKH BT 25.3, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-016-0323-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018258PMC
October 2016

Expanding the Interactome of the Noncanonical NF-κB Signaling Pathway.

J Proteome Res 2016 09 1;15(9):2900-2909. Epub 2016 Aug 1.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, 1090 Vienna, Austria.

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http://dx.doi.org/10.1021/acs.jproteome.5b01004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5295629PMC
September 2016

Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

J Clin Immunol 2016 10 5;36(7):641-8. Epub 2016 Jul 5.

Division of Pediatric Allergy/Immunology, Marmara University, Fevzi Çakmak Mah. No: 41, Pendik, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10875-016-0312-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556363PMC
October 2016

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.

J Clin Immunol 2016 08 23;36(6):533-40. Epub 2016 Jun 23.

St. Anna Kinderspital, Department of Pediatrics, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-016-0306-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4940442PMC
August 2016

Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia.

Clin Immunol 2016 Apr 23;165:1-3. Epub 2016 Feb 23.

Marmara University, Division of Pediatric Allergy/Immunology, Istanbul, Turkey. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.02.008DOI Listing
April 2016

Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?

J Clin Immunol 2016 Jan 10;36(1):6-7. Epub 2015 Dec 10.

Division of Pediatric Hematology-Oncology, St. Anna Children's Hospital, Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-015-0218-5DOI Listing
January 2016

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.

J Pediatr Hematol Oncol 2015 Nov;37(8):616-22

*Division of Pediatric Allergy and Immunology †Department of Pathology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey ‡CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences §Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/MPH.0000000000000441DOI Listing
November 2015

Impaired microbial killing by neutrophils from patients with protein kinase C delta deficiency.

J Allergy Clin Immunol 2015 Nov 30;136(5):1404-7.e1-10. Epub 2015 Jul 30.

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749150086
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http://dx.doi.org/10.1016/j.jaci.2015.06.016DOI Listing
November 2015

Potentially Beneficial Effect of Hydroxychloroquine in a Patient with a Novel Mutation in Protein Kinase Cδ Deficiency.

J Clin Immunol 2015 Aug 2;35(6):523-6. Epub 2015 Aug 2.

Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Mimar Sinan Cad. No: 41, 34890, Istanbul, Turkey.

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http://dx.doi.org/10.1007/s10875-015-0178-9DOI Listing
August 2015

ITK Deficiency: How can EBV be Treated Before Lymphoma?

Pediatr Blood Cancer 2015 Dec 14;62(12):2247-8. Epub 2015 Jul 14.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

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http://dx.doi.org/10.1002/pbc.25648DOI Listing
December 2015

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

N Engl J Med 2015 Jun;372(25):2409-22

From the Division of Immunology (K.D., J.C., S.K., M.J.M., K.C., K.F., T.A.C., R.S.G., L.D.N.) and Manton Center for Orphan Disease Research (L.D.N.), Boston Children's Hospital, and Department of Molecular Biology, Massachusetts General Hospital (T.K.O.), Boston, Harvard Stem Cell Institute, Harvard University, Cambridge (L.D.N.), and Department of Pediatrics, University of Massachusetts Medical School, Worcester (A.M.C.) - all in Massachusetts; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences (C.D.C., I.B., N.K.S., M.S., C.B., K.B.), Department of Pediatrics and Adolescent Medicine, Medical University of Vienna (K.B.), and CeRUD Vienna Center for Rare and Undiagnosed Diseases (K.B.) - all in Vienna; St. Giles Laboratory of Human Genetics of Infectious Disease, Rockefeller Branch, Rockefeller University (S.-Y.Z., M.A., S.O., B.B., Y.I., L.A., J.-L.C.), and Institute for Genomic Medicine, Columbia University (S. Petrovski, D.B.G.) - both in New York; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 1163 (S.-Y.Z., V.P., L.A., J.-L.C.), Paris Descartes University, Sorbonne Paris Cité, Imagine Institute (S.-Y.Z., F.R., P.L., L.A., J.-L.C.), and Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children (J.-L.C.) - all in Paris; Howard Hughes Medical Institute, Chevy Chase, MD (J.-L.C.); Department of Molecular and Translational Medicine, University of Brescia, Brescia (S. Parolini, O.P., G.T.), and Department of Experimental Medicine and Center of Excellence for Biomedical Research, University of Genoa, Genoa (A.M.) - both in Italy; Folkhälsan Institute of Genetics and Research Programs Unit, Molecular Neurology (E.H.), Institute for Molecular Medicine Finland (J.S.), Children's Hospital (M.K.), Research Programs Unit, Diabetes and Obesity Research Program (M.K.), and Folkhälsan Research Center (M.K.), University of Helsinki and Helsinki University Central Hospital, Helsinki, Tampere Center

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http://dx.doi.org/10.1056/NEJMoa1413462DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4480434PMC
June 2015

Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R.

Haematologica 2015 Jun 13;100(6):e216-9. Epub 2015 Mar 13.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria

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http://dx.doi.org/10.3324/haematol.2014.120980DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4450632PMC
June 2015

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

J Allergy Clin Immunol 2015 May 22;135(5):1384-90.e1-8. Epub 2014 Dec 22.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.10.048DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429722PMC
May 2015

Atypical manifestation of LRBA deficiency with predominant IBD-like phenotype.

Inflamm Bowel Dis 2015 Jan;21(1):40-7

*CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; †Department of Pediatric Gastroenterology, Ankara University, Ankara, Turkey; ‡Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; §Department of Pediatric Gastroenterology, Akdeniz University, Antalya, Turkey; ‖Konya Training and Research Hospital, Konya, Turkey; ¶Department of Pathology, Ankara University, Ankara, Turkey; and **Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/MIB.0000000000000266DOI Listing
January 2015

Clinical features of interleukin 10 receptor gene mutations in children with very early-onset inflammatory bowel disease.

J Pediatr Gastroenterol Nutr 2015 Mar;60(3):332-8

*Department of Pediatric Gastroenterology, Hepatology and Nutrition, Istanbul University, Cerrahpasa Medical Faculty, Istanbul, Turkey †CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences ‡Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1097/MPG.0000000000000621DOI Listing
March 2015

Interleukin-2-inducible T-cell kinase (ITK) deficiency - clinical and molecular aspects.

J Clin Immunol 2014 Nov 24;34(8):892-9. Epub 2014 Oct 24.

Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University, Moorenstraße 5, 40225, Duesseldorf, Germany.

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http://dx.doi.org/10.1007/s10875-014-0110-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220104PMC
November 2014

PKCδ is dispensible for oxLDL uptake and foam cell formation by human and murine macrophages.

Cardiovasc Res 2014 Dec 24;104(3):467-76. Epub 2014 Sep 24.

Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, University of Amsterdam, Plesmanlaan 125, Amsterdam 1066CX, The Netherlands.

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http://dx.doi.org/10.1093/cvr/cvu213DOI Listing
December 2014

Combined immunodeficiency evolving into predominant CD4+ lymphopenia caused by somatic chimerism in JAK3.

J Clin Immunol 2014 Nov 10;34(8):941-53. Epub 2014 Sep 10.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, AKH BT 25.3, A-1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-014-0088-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4220108PMC
November 2014

Identification of ITK deficiency as a novel genetic cause of idiopathic CD4+ T-cell lymphopenia.

Blood 2014 Jul;124(4):655-7

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, AustriaDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1182/blood-2014-03-564930DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110665PMC
July 2014

Inflammatory Bowel Disease With Lethal Disease Course Caused by a Nonsense Mutation in BIRC4 Encoding X-Linked Inhibitor of Apoptosis Protein (XIAP).

J Pediatr Gastroenterol Nutr 2016 05;62(5):e41-3

*İstanbul University, Cerrahpaşa Medical Faculty, Pediatric Gastroenterology, Hepatology and Nutrition, Turkey †Research Center for Molecular Medicine of the Austrian Academy of Sciences (CeMM) ‡Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Wien, Austria.

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http://dx.doi.org/10.1097/MPG.0000000000000504DOI Listing
May 2016

Early-onset inflammatory bowel disease and common variable immunodeficiency-like disease caused by IL-21 deficiency.

J Allergy Clin Immunol 2014 Jun 17;133(6):1651-9.e12. Epub 2014 Apr 17.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.02.034DOI Listing
June 2014

A novel immunodeficiency syndrome associated with partial trisomy 19p13.

J Med Genet 2014 Apr 15;51(4):254-63. Epub 2014 Jan 15.

Divison of Pediatric Hematology-Oncology, Department Pediatrics and Adolescent Medicine, Medical University Graz, Graz, Austria.

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http://dx.doi.org/10.1136/jmedgenet-2013-102122DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3963557PMC
April 2014

High-content cytometry and transcriptomic biomarker profiling of human B-cell activation.

J Allergy Clin Immunol 2014 Jan 5;133(1):172-80.e1-10. Epub 2013 Sep 5.

Department of Pediatric Pneumology, Allergy and Neonatology, Hannover Medical School, Hannover, Germany.

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http://dx.doi.org/10.1016/j.jaci.2013.06.047DOI Listing
January 2014

Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase.

Hematol Oncol Clin North Am 2013 Feb 27;27(1):43-60, vii. Epub 2012 Nov 27.

Department of Pediatrics and Adolescent Medicine, CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Medical University of Vienna, Lazarettgasse 14 AKH BT 25.3, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1016/j.hoc.2012.11.004DOI Listing
February 2013

A novel mutation in the complement component 3 gene in a patient with selective IgA deficiency.

J Clin Immunol 2013 Jan 21;33(1):127-33. Epub 2012 Sep 21.

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Lazarettgasse 14, AKH BT 25.3, A-1090, Vienna, Austria.

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http://dx.doi.org/10.1007/s10875-012-9775-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3555245PMC
January 2013

A case of syndromic neutropenia and mutation in G6PC3.

J Pediatr Hematol Oncol 2011 Mar;33(2):138-40

Division of Pediatric Hematology/Oncology, G Salesi Women's and Children's Hospital, Institute of Mother and Child Health, Polytechnic University of Marche, Italy.

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https://insights.ovid.com/crossref?an=00043426-201103000-000
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http://dx.doi.org/10.1097/MPH.0b013e3181f46bf4DOI Listing
March 2011