Bodo Grimbacher

Bodo Grimbacher

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Bodo Grimbacher

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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Front Immunol 2018 16;9:543. Epub 2018 Mar 16.

Center for Chronic Immunodeficiency, Medical Center - University of Freiburg, Freiburg, Germany.

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http://journal.frontiersin.org/article/10.3389/fimmu.2018.00
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http://dx.doi.org/10.3389/fimmu.2018.00543DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5863269PMC
May 2019

Treatment of Progressive Multifocal Leukoencephalopathy with Pembrolizumab.

N Engl J Med 2019 04 10;380(17):1676-1677. Epub 2019 Apr 10.

Albert Ludwigs University, Freiburg, Germany.

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http://dx.doi.org/10.1056/NEJMc1817193DOI Listing
April 2019

Evaluating laboratory criteria for combined immunodeficiency in adult patients diagnosed with common variable immunodeficiency.

Clin Immunol 2019 Apr 17;203:59-62. Epub 2019 Apr 17.

Department for Rheumatology and Clinical Immunology and Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2019.04.001DOI Listing
April 2019

Assessing the Functional Relevance of Variants in the () in a Cohort of Patients With Primary Immunodeficiency.

Front Immunol 2019 16;10:568. Epub 2019 Apr 16.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.3389/fimmu.2019.00568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6477086PMC
April 2019

A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).

Clin Immunol 2019 Mar 9;200:31-34. Epub 2019 Jan 9.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2019.01.003DOI Listing
March 2019

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.

J Allergy Clin Immunol Pract 2019 Feb 15. Epub 2019 Feb 15.

Institute for Immunodeficiency, Center for Chronic Immunodeficiency (CCI), Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2019.02.004DOI Listing
February 2019

What did we learn from CTLA-4 insufficiency on the human immune system?

Immunol Rev 2019 Jan;287(1):33-49

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://doi.wiley.com/10.1111/imr.12721
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http://dx.doi.org/10.1111/imr.12721DOI Listing
January 2019

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.

J Allergy Clin Immunol 2018 Dec 4;142(6):1932-1946. Epub 2018 May 4.

Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2018.02.055DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215742PMC
December 2018

Defective TLR9-driven STAT3 activation in B cells of patients with CVID.

Clin Immunol 2018 Dec 23;197:40-44. Epub 2018 Aug 23.

Division of Immunology, Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2018.08.008DOI Listing
December 2018

A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T17 immunity.

J Allergy Clin Immunol 2018 Dec 5;142(6):1968-1971. Epub 2018 Sep 5.

Clinical Immunology Research Lab, Department of Pulmonary Medicine, Ghent University Hospital, Ghent, Belgium; Center for Primary Immunodeficiency, Jeffrey Modell Diagnosis and Research Centre, Ghent University Hospital, Ghent, Belgium; Laboratory of Immunoregulation, VIB-UGent Inflammation Research Center, Ghent, Belgium; Department of Internal Medicine, Ghent University, Ghent, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183127
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http://dx.doi.org/10.1016/j.jaci.2018.08.026DOI Listing
December 2018

Nuclear factor κB mutations in human subjects: The devil is in the details.

J Allergy Clin Immunol 2018 Oct 28;142(4):1062-1065. Epub 2018 Aug 28.

Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749183119
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http://dx.doi.org/10.1016/j.jaci.2018.06.050DOI Listing
October 2018

CTLA-4 regulates human Natural Killer cell effector functions.

Clin Immunol 2018 Sep 30;194:43-45. Epub 2018 Jun 30.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia and ASST-Spedali Civili of Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2018.06.010DOI Listing
September 2018

Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family.

J Clin Immunol 2018 May 26;38(4):471-474. Epub 2018 May 26.

Research Department, Immunology Laboratory, Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, 223053, Borovliani, Minsk Region, Belarus.

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http://link.springer.com/10.1007/s10875-018-0515-x
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http://dx.doi.org/10.1007/s10875-018-0515-xDOI Listing
May 2018

"Immune TOR-opathies," a Novel Disease Entity in Clinical Immunology.

Front Immunol 2018 9;9:966. Epub 2018 May 9.

Center for Chronic Immunodeficiency (CCI), Medical Center - Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.3389/fimmu.2018.00966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954032PMC
May 2018

Rapid Flow Cytometry-Based Test for the Diagnosis of Lipopolysaccharide Responsive Beige-Like Anchor (LRBA) Deficiency.

Front Immunol 2018 23;9:720. Epub 2018 Apr 23.

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.3389/fimmu.2018.00720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925005PMC
April 2018

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Inflamm Bowel Dis 2017 12;23(12):2109-2120

1Institute of Clinical Molecular Biology, Kiel University, Kiel, Germany; 2Center for Chronic Immunodeficiency (CCI), DZIF Satellite Center, Medical Center, Faculty of Medicine, Germany; 3Paediatric Gastroenterology, Klinikum Nürnberg, Nuremberg, Germany; 4Laboratory of Applied Molecular Biology and Immunology, University of Abou-Bekr Belkaïd, Tlemcen, Algeria; 5Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; 6Clinic of Pediatric Allergy and Immunology, Marmara University Pendik Training and Research Hospital, Istanbul, Turkey; 7Department of Gastroenterology and Clinical Nutrition, Birmingham Children's Hospital, Birmingham, United Kingdom; 8Department of Paediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 9Department of Immunology, Royal Free Hospital, London, United Kingdom; 10Primary Immunodeficiencies Unit, Hospital Dona Estefania, Pediatric University Hospital, and CEDOC, Chronic Diseases Research Center, NOVA Medical School, Lisbon, Portugal; 11Department of Pediatric Gasteroentrology and Hepatology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 12Helios Kliniken, Childrens Hospital, Krefeld, Germany; 13Pediatrics Department, Faculty of Medicine, Cairo University, Cairo, Egypt; 14Paediatric Gastroenterology/Hepatology, University of Freiburg, Freiburg, Germany; 15Institute of Medical Microbiology and Hygiene, University of Freiburg, Freiburg, Germany; 16Department of Pediatrics, University Medical Center Dresden, Technische Universität Dresden, Dresden, Germany; 17Department of Medicine II, University Hospital and Medical Faculty, University Freiburg, Freiburg, Germany; 18Department of Paediatrics, Centre for Diagnosis and Treatment of Primary Immunodeficiencies, Jessenius Faculty of Medicine, Commenius University in Bratislava, Martin, Slovakia; 19Department of Pediatrics, Faculty of Medicine, Ege University, Izmir, Turkey; 20Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 21Pediatric Immunology Division, Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey; 22Dr. von Hauner Children's Hospital, Department of Pediatrics, Ludwig-Maximilians-Universität Munich, Munich, Germany; 23Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 24Center for Pediatrics, Department of Pediatric Hematology and Oncology, University Medical Center, University of Freiburg, Faculty of Medicine, University of Freiburg, Germany; 25Department of Paediatric Immunology and Infectious Diseases, Our Lady's Children's Hospital, Dublin, Ireland; 26Department of Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 27Department of Paediatric Gastroenterology, St. George's Healthcare NHS Trust and University of London, London, United Kingdom; 28Department of Gastroenterology and Clinical Nutrition, Marmara University Medical Faculty, Istanbul, Turkey; 29Service of Clinical Laboratory, Division of Immunology, San Pedro De Alcántara Hospital, Cáceres, Spain; 30Bone Marrow Failure Group, Division of Pediatric Hematology and Oncology, University of Freiburg, Germany; 31Children's Hospital, University of Bonn, Germany; 32University College London Institute of Immunity and Transplantation, Royal Free Campus, London, United Kingdom; 33Department of Paediatrics, St. George's Hospital, University of London, London, United Kingdom; 34Department of Pediatrics, Universitair Ziekenhuis Brussel, Brussels, Belgium; 35Pediatric Pneumology and Immunology, Department of Immunology, Charité University Medicine Labor Berlin Charité Vivantes GmbH, Berlin, Germany; 36Department of Medicine I, University Medical Center Dresden, Technische Universität Dresden, Dresden, Germany; 37Center for Regenerative Therapies, Technische Universität Dresden, Dresden, Germany; and 38Institute of Laboratory Medicine, Brandenburg Hospital, Brandenburg Medical School, Brandenburg/Havel, Germany.

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http://dx.doi.org/10.1097/MIB.0000000000001235DOI Listing
December 2017

Autoimmunity and primary immunodeficiency: two sides of the same coin?

Nat Rev Rheumatol 2017 Dec;14(1):7-18

Klinik für Immunologie und Rheumatologie, Medizinische Hochschule Hannover (MHH), Carl-Neuberg Straße 1, D-30625 Hannover, Germany.

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http://dx.doi.org/10.1038/nrrheum.2017.198DOI Listing
December 2017

Immunological phenotype of the murine Lrba knockout.

Immunol Cell Biol 2017 10 25;95(9):789-802. Epub 2017 Jul 25.

Center for Chronic Immunodeficiency (CCI), Medical Center-Faculty of Medicine, University of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1038/icb.2017.52DOI Listing
October 2017

Respiratory Infections and Antibiotic Usage in Common Variable Immunodeficiency.

J Allergy Clin Immunol Pract 2018 Jan - Feb;6(1):159-168.e3. Epub 2017 Jul 19.

Department of Clinical Immunology, Royal Free London NHS Foundation Trust, London, United Kingdom; Institute of Immunity and Transplantation, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaip.2017.05.024DOI Listing
July 2017

Evaluation of RAG1 mutations in an adult with combined immunodeficiency and progressive multifocal leukoencephalopathy.

Clin Immunol 2017 06 20;179:1-7. Epub 2017 Feb 20.

Department for Clinical Immunology and Rheumatology, Hannover Medical School, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clim.2016.12.013DOI Listing
June 2017

Autoantibodies against BAFF, APRIL or IL21 - an alternative pathogenesis for antibody-deficiencies?

BMC Immunol 2017 06 26;18(1):34. Epub 2017 Jun 26.

Centre for Chronic Immunodeficiency, Medical Centre University Hospital, Medical Faculty of Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1186/s12865-017-0217-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5485583PMC
June 2017

Rescue of Cytokine Storm Due to HLH by Hemoadsorption in a CTLA4-Deficient Patient.

J Clin Immunol 2017 04 6;37(3):273-276. Epub 2017 Mar 6.

Center for Chronic Immunodeficiency, Faculty of Medicine, Medical Center-University of Freiburg, Breisacher Str. 115, 79106, Freiburg, Germany.

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http://dx.doi.org/10.1007/s10875-017-0377-7DOI Listing
April 2017

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

J Allergy Clin Immunol 2017 02 16;139(2):597-606.e4. Epub 2016 Jul 16.

Department of Paediatric Immunology, Newcastle upon Tyne hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom; Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom.

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http://dx.doi.org/10.1016/j.jaci.2016.06.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5292996PMC
February 2017

NFKB1 regulates human NK cell maturation and effector functions.

Clin Immunol 2017 02 3;175:99-108. Epub 2016 Dec 3.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2016.11.012DOI Listing
February 2017

Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency.

J Allergy Clin Immunol 2017 01 14;139(1):220-231.e8. Epub 2016 Jun 14.

Center for Chronic Immunodeficiency, University Medical Center and University of Freiburg, Freiburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2016.04.043DOI Listing
January 2017

Important Factors Influencing Severity of Common Variable Immunodeficiency.

Arch Iran Med 2016 Aug;19(8):544-50

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/0161908/AIM.005DOI Listing
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

DOCK8 deficiency in six Iranian patients.

Clin Case Rep 2016 06 17;4(6):593-600. Epub 2016 May 17.

Centre for Chronic Immunodeficiency (CCI) University Medical Center Freiburg and University of Freiburg Freiburg Germany.

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http://dx.doi.org/10.1002/ccr3.574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891486PMC
June 2016

Successful Granulocyte Colony-stimulating Factor Treatment of Relapsing Candida albicans Meningoencephalitis Caused by CARD9 Deficiency.

Pediatr Infect Dis J 2016 Apr;35(4):428-31

From the *Department of Pediatric Allergy-Immunology, †Department of Infectious Diseases and Clinical Microbiology, ‡Department of Pediatrics, Antalya Education and Research Hospital, Antalya, Turkey; §Department of Medical Microbiology, Akdeniz University Medical School Hospital, Antalya, Turkey; ¶Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; ‖DZIF-Standort Freiburg, Germany; and **Institute of Immunity and Transplantation, Royal Free Hospital, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/INF.0000000000001028DOI Listing
April 2016

Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

J Clin Immunol 2016 Apr 27;36(3):179-86. Epub 2016 Feb 27.

CCI-Center for Chronic Immunodeficiency, Universitätsklinikum Freiburg, Engesserstraße 4, 79108, Freiburg, Germany.

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http://link.springer.com/10.1007/s10875-016-0245-x
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http://dx.doi.org/10.1007/s10875-016-0245-xDOI Listing
April 2016

Infancy-Onset T1DM, Short Stature, and Severe Immunodysregulation in Two Siblings With a Homozygous LRBA Mutation.

J Clin Endocrinol Metab 2016 Mar 8;101(3):898-904. Epub 2016 Jan 8.

Pediatric Endocrinology (F.S., M.P., B.Go., J.W.), Pediatric Gastroenterology and Hepatology (G.D.), and Pediatric Hematology and Oncology (S.S.), Children's Hospital, University of Bonn, 53113 Bonn, Germany; Center for Chronic Immunodeficiency (L.G.-D., B.Gr.), University Medical Center and University of Freiburg, 79085 Freiburg, Germany; Institute for Human Genetics (A.C.H., H.R.), University of Bonn, 53113 Bonn, Germany; and Department of Neonatology and Pediatric Intensive Care (H.R.), Children's Hospital, University of Bonn, 53113 Bonn, Germany.

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http://dx.doi.org/10.1210/jc.2015-3382DOI Listing
March 2016

The crossroads of autoimmunity and immunodeficiency: Lessons from polygenic traits and monogenic defects.

J Allergy Clin Immunol 2016 Jan;137(1):3-17

Center for Chronic Immunodeficiency (CCI), University Medical Center Freiburg, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jaci.2015.11.004DOI Listing
January 2016

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.

J Allergy Clin Immunol 2016 Jan;137(1):223-230

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; UCL Centre for Immunodeficiency, Royal Free Hospital Foundation Trust, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2015.09.025DOI Listing
January 2016

Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X).

Pediatr Infect Dis J 2015 Sep;34(9):999-1002

From the *Department of Pediatrics, Pediatric Infectious Diseases and Immunology, University of Wuerzburg, Germany; †Department of Blood Cell Research, Sanquin Research and Landsteiner Laboratory, Academic Medical Center, Amsterdam, The Netherlands; ‡Department of Pediatrics, Hospital Aschaffenburg, Germany; §University Children's Hospital at Dr. von Haunersches Kinderspital, Ludwig Maximilians University, Munich, Germany; ¶Department of Pediatric Hematology and Oncology, University Children's Hospital, Muenster, Germany; ‖Center for Chronic Immunodeficiency, University of Freiburg, Germany; and **Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1097/INF.0000000000000736DOI Listing
September 2015

Haploinsufficiency of the NF-κB1 Subunit p50 in Common Variable Immunodeficiency.

Am J Hum Genet 2015 Sep 13;97(3):389-403. Epub 2015 Aug 13.

Center for Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Freiburg 79108, Germany; Institute of Immunity and Transplantation, University College London, London WC1E 6BT, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4564940PMC
September 2015

Lung disease in primary antibody deficiency.

Lancet Respir Med 2015 Aug 15;3(8):651-60. Epub 2015 Jul 15.

UCL Respiratory, University College London, London, UK. Electronic address:

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http://dx.doi.org/10.1016/S2213-2600(15)00202-7DOI Listing
August 2015

Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation.

Clin Immunol 2015 Jul 27;159(1):84-92. Epub 2015 Apr 27.

Pediatric Hematology/Oncology and Bone Marrow Transplantation, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.clim.2015.04.007DOI Listing
July 2015

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

J Clin Immunol 2015 Jul 6;35(5):439-44. Epub 2015 May 6.

Department of Immunology, Institute of Immunology and Transplantation, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1007/s10875-015-0166-0DOI Listing
July 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

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.

J Allergy Clin Immunol 2015 Apr 11;135(4):998-1007.e6. Epub 2014 Oct 11.

INSERM UMR 1163, The Human Lymphohematopoiesis Laboratory, Imagine Institute, Paris, France; Paris Descartes Sorbonne Paris Cité University, Imagine Institute, Paris, France; Department of Immunology and Hematology, Hôpital Necker Enfants Malades, F-75015 Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.08.030DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4382329PMC
April 2015

The diagnosis of hyper immunoglobulin e syndrome based on project management.

Iran J Allergy Asthma Immunol 2015 Apr;14(2):126-32

Immmunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran and Department of Immunology and Allergy, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran

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http://search.proquest.com/openview/5f42fd194834897265ac1af0
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April 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

The use of databases in primary immunodeficiencies.

Curr Opin Allergy Clin Immunol 2014 Dec;14(6):501-8

Center for Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Germany for the ESID Registry Working Party.

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http://pdfs.journals.lww.com/co-allergy/2014/12000/The_use_o
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/ACI.0000000000000113DOI Listing
December 2014

Hyper-IgE syndromes: reviewing PGM3 deficiency.

Curr Opin Pediatr 2014 Dec;26(6):697-703

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany.

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http://pdfs.journals.lww.com/co-pediatrics/2014/12000/Hyper_
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MOP.0000000000000158DOI Listing
December 2014

IL-10 in humans: lessons from the gut, IL-10/IL-10 receptor deficiencies, and IL-10 polymorphisms.

Curr Top Microbiol Immunol 2014 ;380:1-18

Centre of Chronic Immunodeficiency, Freiburg, Germany.

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http://dx.doi.org/10.1007/978-3-662-43492-5_1DOI Listing
November 2014

Reply: To PMID 24582167.

J Allergy Clin Immunol 2014 Oct 23;134(4):990. Epub 2014 Aug 23.

Cancer Sciences Division, University of Southampton Faculty of Medicine, Southampton, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00916749140096
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http://dx.doi.org/10.1016/j.jaci.2014.06.040DOI Listing
October 2014

Common variable immunodeficiency is associated with a functional deficiency of invariant natural killer T cells.

J Allergy Clin Immunol 2014 May 26;133(5):1420-8, 1428.e1. Epub 2014 Feb 26.

Faculty of Medicine, Cancer Sciences Division, University of Southampton, Southampton, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2013.10.059DOI Listing
May 2014

Evidence for non-neutralizing autoantibodies against IL-10 signalling components in patients with inflammatory bowel disease.

BMC Immunol 2014 Feb 28;15:10. Epub 2014 Feb 28.

Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Engesser Straße 4, 79108 Freiburg, Germany.

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http://dx.doi.org/10.1186/1471-2172-15-10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3942769PMC
February 2014

Activity, severity and impact of respiratory disease in primary antibody deficiency syndromes.

J Clin Immunol 2014 Jan 18;34(1):68-75. Epub 2013 Oct 18.

UCL Respiratory Medicine, University College London, London, UK,

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http://dx.doi.org/10.1007/s10875-013-9942-xDOI Listing
January 2014

Deep dermatophytosis and inherited CARD9 deficiency.

N Engl J Med 2013 Oct 16;369(18):1704-1714. Epub 2013 Oct 16.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM Unité 980 Necker Medical School, Imagine Institute and University Paris Descartes, Sorbonne Paris Cité (F.L., Q.B.V., L.L., M.M., L.A., J.-L.C., C. Picard, A.P.), Infectious Diseases and Tropical Medicine Unit (F.L., O.L.) and Pediatric Hematology-Immunology Unit (J.-L.C.), Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), and University Paris Descartes, Dermatology Unit (H.B.) and Skin Research Institute (L.M.), INSERM Unité 697, Saint Louis Hospital, INSERM Unité 781, Necker-Enfants Malades Hospital (H.B.), Human Histopathology and Animal Models, Infection and Epidemiology Department (G.J., F.C.), and the National Reference Center for Invasive Mycoses and Antifungals, Molecular Mycology Unit (O.L.), Institut Pasteur, and the Pathology Unit (S.F.), Microbiology Unit (M.-E.B.), and Study Center for Immunodeficiency (C. Picard), Necker-Enfants Malades Hospital, AP-HP - all in Paris; University College London, Royal Free Hospital (S.P., B. Grimbacher) and International Foundation for Dermatology, Willan House (R.H.), London; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York (S.C., C. Prando, L.A., J.-L.C.); the Dermatology Unit, Mustapha Hospital and Faculty of Medicine, Algiers (L.T., A.A.-K.), the Dermatology Unit, Dr. T. Damerdji Tlemcen Hospital and Aboubakr Belkaid University, Tlemcen (O.B.S., M.B.), and the Dermatology Unit, Hassani Abdelkader Hospital, and Faculty of Medicine, Djillali Liabes University, Sidi Bel-Abbes (B. Guellil) - all in Algeria; the Infectious Diseases Unit (F.J., J.-C.G., K.S.) and Dermatology Unit (V.M.), Erasme Hospital, Brussels; the Dermatology Unit, Farhat Hached Hospital, Sousse, Tunisia (L.B., M.D., M.L.); the Molecular Immunogenetics Unit, National Center for Scientific Research, UPR 1142, Institute of Human Genetics, and University Montpellier 2, Montpellier, France (G.L.); and the Center for Chronic Immunodeficiency, University Hospital Freiburg, Freiburg, Germany (B. Grimbacher).

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http://dx.doi.org/10.1056/NEJMoa1208487DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4084693PMC
October 2013

Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

J Pediatr 2013 Jul 26;163(1):277-9. Epub 2013 Mar 26.

Division of Pediatric Allergy and Clinical Immunology, Department of Pediatrics, McGill University Health Center, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1016/j.jpeds.2013.02.040DOI Listing
July 2013

Therapeutic management of primary immunodeficiency in older patients.

Drugs Aging 2013 Jul;30(7):503-12

Department of Immunology and Molecular Pathology, Royal Free Hospital and University College London, London, UK.

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http://dx.doi.org/10.1007/s40266-013-0079-7DOI Listing
July 2013

Reduced bone density in patients with autosomal dominant hyper-IgE syndrome.

J Clin Immunol 2013 Jul 19;33(5):903-8. Epub 2013 Apr 19.

Department of Pediatrics B and Kipper Institute of Allergy and Immunology, Schneider Children's Medical Center of Israel, Sackler Faculty of Medicine, Tel Aviv University, Petach Tikva 49202, Israel.

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http://dx.doi.org/10.1007/s10875-013-9895-0DOI Listing
July 2013

B-cell biology and development.

J Allergy Clin Immunol 2013 Apr 5;131(4):959-71. Epub 2013 Mar 5.

Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Faculty of Biology, Albert-Ludwigs-Universität, Freiburg, Germany.

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http://dx.doi.org/10.1016/j.jaci.2013.01.046DOI Listing
April 2013