Publications by authors named "Bodo Grimbacher"

100Publications

Safety and efficacy of abatacept in patients with treatment-resistant SARCoidosis (ABASARC) - protocol for a multi-center, single-arm phase IIa trial.

Contemp Clin Trials Commun 2020 Sep 29;19:100575. Epub 2020 May 29.

Department of Pneumology, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.conctc.2020.100575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7292904PMC
September 2020

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

J Allergy Clin Immunol 2020 Apr 9. 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:

View Article

Download full-text PDF

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

Cancer Tendency in a Patient with ZNF341 Deficiency.

J Clin Immunol 2020 Apr 24;40(3):534-538. Epub 2020 Jan 24.

Division of Pediatric Immunology, Uludag University Faculty of Medicine, Bursa, Turkey.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-020-00756-zDOI Listing
April 2020

Structural Noninfectious Manifestations of the Central Nervous System in Common Variable Immunodeficiency Disorders.

J Allergy Clin Immunol Pract 2020 Mar 16;8(3):1047-1062.e6. Epub 2019 Dec 16.

Department of Rheumatology and Clinical Immunology, Division of Immunodeficiency, Medical Center of the University Hospital, Faculty of Medicine, University of Freiburg, Freiburg, Germany. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2019.11.039DOI Listing
March 2020

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.

Clin Immunol 2020 01 23;210:108316. Epub 2019 Nov 23.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2019.108316DOI Listing
January 2020

The German National Registry of Primary Immunodeficiencies (2012-2017).

Authors:
Sabine M El-Helou Anika-Kerstin Biegner Sebastian Bode Stephan R Ehl Maximilian Heeg Maria E Maccari Henrike Ritterbusch Carsten Speckmann Stephan Rusch Raphael Scheible Klaus Warnatz Faranaz Atschekzei Renata Beider Diana Ernst Stev Gerschmann Alexandra Jablonka Gudrun Mielke Reinhold E Schmidt Gesine Schürmann Georgios Sogkas Ulrich H Baumann Christian Klemann Dorothee Viemann Horst von Bernuth Renate Krüger Leif G Hanitsch Carmen M Scheibenbogen Kirsten Wittke Michael H Albert Anna Eichinger Fabian Hauck Christoph Klein Anita Rack-Hoch Franz M Sollinger Anne Avila Michael Borte Stephan Borte Maria Fasshauer Anja Hauenherm Nils Kellner Anna H Müller Anett Ülzen Peter Bader Shahrzad Bakhtiar Jae-Yun Lee Ursula Heß Ralf Schubert Sandra Wölke Stefan Zielen Sujal Ghosh Hans-Juergen Laws Jennifer Neubert Prasad T Oommen Manfred Hönig Ansgar Schulz Sandra Steinmann Klaus Schwarz Gregor Dückers Beate Lamers Vanessa Langemeyer Tim Niehues Sonu Shai Dagmar Graf Carmen Müglich Marc T Schmalzing Eva C Schwaneck Hans-Peter Tony Johannes Dirks Gabriele Haase Johannes G Liese Henner Morbach Dirk Foell Antje Hellige Helmut Wittkowski Katja Masjosthusmann Michael Mohr Linda Geberzahn Christian M Hedrich Christiane Müller Angela Rösen-Wolff Joachim Roesler Antje Zimmermann Uta Behrends Nikolaus Rieber Uwe Schauer Rupert Handgretinger Ursula Holzer Jörg Henes Lothar Kanz Christoph Boesecke Jürgen K Rockstroh Carolynne Schwarze-Zander Jan-Christian Wasmuth Dagmar Dilloo Brigitte Hülsmann Stefan Schönberger Stefan Schreiber Rainald Zeuner Tobias Ankermann Philipp von Bismarck Hans-Iko Huppertz Petra Kaiser-Labusch Johann Greil Donate Jakoby Andreas E Kulozik Markus Metzler Nora Naumann-Bartsch Bettina Sobik Norbert Graf Sabine Heine Robin Kobbe Kai Lehmberg Ingo Müller Friedrich Herrmann Gerd Horneff Ariane Klein Joachim Peitz Nadine Schmidt Stefan Bielack Ute Groß-Wieltsch Carl F Classen Jessica Klasen Peter Deutz Dirk Kamitz Lisa Lassay Klaus Tenbrock Norbert Wagner Benedikt Bernbeck Bastian Brummel Eusebia Lara-Villacanas Esther Münstermann Dominik T Schneider Nadine Tietsch Marco Westkemper Michael Weiß Christof Kramm Ingrid Kühnle Silke Kullmann Hermann Girschick Christof Specker Elisabeth Vinnemeier-Laubenthal Henriette Haenicke Claudia Schulz Lothar Schweigerer Thomas G Müller Martina Stiefel Bernd H Belohradsky Veronika Soetedjo Gerhard Kindle Bodo Grimbacher

Front Immunol 2019 19;10:1272. Epub 2019 Jul 19.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2019.01272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659583PMC
July 2019

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

Front Immunol 2019;10:1490. Epub 2019 Jun 28.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2019.01490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6611354PMC
June 2019

FAS mutations are an uncommon cause of immune thrombocytopenia in children and adults without additional features of immunodeficiency.

Br J Haematol 2019 09 6;186(6):e163-e165. Epub 2019 Jun 6.

Centre for Haematology, Faculty of Medicine, Imperial College London, London, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.15979DOI Listing
September 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.

View Article

Download full-text PDF

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

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

Clin Immunol 2019 06 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:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clim.2019.04.001DOI Listing
June 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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1056/NEJMc1817193DOI Listing
April 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 Jul - Aug;7(6):1763-1770. 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:

View Article

Download full-text PDF

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

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

Clin Immunol 2019 03 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.

View Article

Download full-text PDF

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

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

Immunol Rev 2019 01;287(1):33-49

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

View Article

Download full-text PDF

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

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 12 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.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00916749183127
Publisher Site
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 10 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:

View Article

Download full-text PDF

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

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

Clin Immunol 2018 12 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:

View Article

Download full-text PDF

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

CTLA-4 regulates human Natural Killer cell effector functions.

Clin Immunol 2018 09 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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.00966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954032PMC
July 2019

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

J Clin Immunol 2018 05 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.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s10875-018-0515-x
Publisher Site
http://dx.doi.org/10.1007/s10875-018-0515-xDOI Listing
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.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fimmu.2018.00720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925005PMC
May 2019

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

J Allergy Clin Immunol 2018 12 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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jaip.2017.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7185402PMC
October 2019

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/0161908/AIM.005DOI Listing
August 2016

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:

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

Source
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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10875-015-0166-0DOI Listing
July 2015

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.

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

Source
http://search.proquest.com/openview/5f42fd194834897265ac1af0
Web Search
April 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:

View Article

Download full-text PDF

Source
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.

View Article

Download full-text PDF

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

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.

View Article

Download full-text PDF

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

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:

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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

View Article

Download full-text PDF

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