Bodo Grimbacher

Summary

Affiliation: University of Freiburg
Country: Germany

Publications

  1. pmc Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes
    Li Zhang
    Department of Medicine, Pediatrics and the Immunobiology Center, Mount Sinai Medical School, New York, NY, USA
    J Allergy Clin Immunol 120:1178-85. 2007
  2. doi request reprint Common variable immunodeficiency disorders: division into distinct clinical phenotypes
    Helen Chapel
    Department of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom
    Blood 112:277-86. 2008
  3. ncbi request reprint Hyper-IgE syndromes
    Bodo Grimbacher
    Department Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Freiburg, Germany
    Immunol Rev 203:244-50. 2005
  4. ncbi request reprint The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity
    Bodo Grimbacher
    Department of Rheumatology and Clinical Immunology, Medical Center of the University of Freiburg, Freiburg, Germany
    Curr Opin Allergy Clin Immunol 3:409-19. 2003
  5. ncbi request reprint The genetics of hypogammaglobulinemia
    Bodo Grimbacher
    Division of Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Germany
    Curr Allergy Asthma Rep 4:349-58. 2004
  6. pmc Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
    Ulrich Salzer
    Department of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany
    Blood 113:1967-76. 2009
  7. doi request reprint Genetic CD21 deficiency is associated with hypogammaglobulinemia
    Jens Thiel
    Department of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany
    J Allergy Clin Immunol 129:801-810.e6. 2012
  8. ncbi request reprint Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency
    Klaus Warnatz
    Division of Rheumatology and Clinical Immunology, University Hospital, Freiburg, Germany
    Blood 107:3045-52. 2006
  9. ncbi request reprint ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells
    Lukas Bossaller
    Division of Rheumatology and Clinical Immunology, University Clinic Freiburg, Hugstetterstrasse 55, D 79106 Freiburg, Germany
    J Immunol 177:4927-32. 2006
  10. ncbi request reprint Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy
    Julia Horn
    Division of Rheumatology and Clinical Immunology, University Hospital Freiburg, Hugstetterstr 55, D 79106 Freiburg, Germany
    Clin Immunol 122:156-62. 2007

Collaborators

Detail Information

Publications42

  1. pmc Transmembrane activator and calcium-modulating cyclophilin ligand interactor mutations in common variable immunodeficiency: clinical and immunologic outcomes in heterozygotes
    Li Zhang
    Department of Medicine, Pediatrics and the Immunobiology Center, Mount Sinai Medical School, New York, NY, USA
    J Allergy Clin Immunol 120:1178-85. 2007
    ..Mutations coincided with immunodeficiency in families, suggesting dominant inheritance...
  2. doi request reprint Common variable immunodeficiency disorders: division into distinct clinical phenotypes
    Helen Chapel
    Department of Clinical Immunology, Nuffield Department of Medicine, University of Oxford, Oxford, United Kingdom
    Blood 112:277-86. 2008
    ..Higher serum IgM and lower circulating CD8 proportions were found to be predictive markers for polyclonal lymphocytic infiltration and autoimmunity, respectively...
  3. ncbi request reprint Hyper-IgE syndromes
    Bodo Grimbacher
    Department Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Freiburg, Germany
    Immunol Rev 203:244-50. 2005
    ..Anti-staphylococcal antibiotic prophylaxis is useful. Interferons, immunoglobulin supplementation, or low-dose cyclosporine A have been reported to benefit selected patients, but they are not generally indicated...
  4. ncbi request reprint The immunological synapse for B-cell memory: the role of the ICOS and its ligand for the longevity of humoral immunity
    Bodo Grimbacher
    Department of Rheumatology and Clinical Immunology, Medical Center of the University of Freiburg, Freiburg, Germany
    Curr Opin Allergy Clin Immunol 3:409-19. 2003
    ..Therefore, the ICOS is after CD40 and CD40-ligand deficiency the third costimulatory molecule for which a human disease has been described...
  5. ncbi request reprint The genetics of hypogammaglobulinemia
    Bodo Grimbacher
    Division of Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Germany
    Curr Allergy Asthma Rep 4:349-58. 2004
    ..Although recent reviews focus on the complex genetics of common variable immunodeficiency, in this review, we survey different causes of hypogammaglobulinemias and discuss possible mechanisms...
  6. pmc Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes
    Ulrich Salzer
    Department of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany
    Blood 113:1967-76. 2009
    ..001), and autoimmune complications (P= .001). These associations indicate that C104R heterozygosity increases the risk for common variable immunodeficiency disorders and influences clinical presentation...
  7. doi request reprint Genetic CD21 deficiency is associated with hypogammaglobulinemia
    Jens Thiel
    Department of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany
    J Allergy Clin Immunol 129:801-810.e6. 2012
    ..Complement receptor 2 (CR2/CD21) is part of the B-cell coreceptor and expressed by mature B cells and follicular dendritic cells. CD21 is a receptor for C3d-opsonized immune complexes and enhances antigen-specific B-cell responses...
  8. ncbi request reprint Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency
    Klaus Warnatz
    Division of Rheumatology and Clinical Immunology, University Hospital, Freiburg, Germany
    Blood 107:3045-52. 2006
    ..Human ICOS deficiency is indistinguishable from CVID and thus serves as a monogenic model for this complex syndrome...
  9. ncbi request reprint ICOS deficiency is associated with a severe reduction of CXCR5+CD4 germinal center Th cells
    Lukas Bossaller
    Division of Rheumatology and Clinical Immunology, University Clinic Freiburg, Hugstetterstrasse 55, D 79106 Freiburg, Germany
    J Immunol 177:4927-32. 2006
    ....
  10. ncbi request reprint Anti-IgA antibodies in common variable immunodeficiency (CVID): diagnostic workup and therapeutic strategy
    Julia Horn
    Division of Rheumatology and Clinical Immunology, University Hospital Freiburg, Hugstetterstr 55, D 79106 Freiburg, Germany
    Clin Immunol 122:156-62. 2007
    ..In seven of the eight patients, lymphoproliferation was observed (most prominently nodular lymphatic hyperplasia), two had granulomatous disease, and two showed autoimmune phenomena...
  11. pmc Screening of functional and positional candidate genes in families with common variable immunodeficiency
    Ulrich Salzer
    Division of Rheumatology and Clinical Immunology, Medical School, University Hospital Freiburg, Hugstetterstr, 55, 79106 Freiburg, Germany
    BMC Immunol 9:3. 2008
    ..The recent discovery that some CVID patients show monogenic defects in the genes encoding ICOS, TACI or CD19 prompted us to investigate several functional candidate genes in individuals with CVID...
  12. ncbi request reprint Linkage of autosomal-dominant common variable immunodeficiency to chromosome 4q
    Anemone Finck
    Department of Medicine, Division of Rheumatology and Clinical Immunology, University Hospital Freiburg, Freiburg, Germany
    Eur J Hum Genet 14:867-75. 2006
    ..32, supporting the existence of a disease-causing gene for autosomal-dominant CVID/IgAD on chromosome 4q...
  13. doi request reprint Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency
    Ulrich Salzer
    Division of Rheumatology and Clinical Immunology, Medical School, University Hospital Freiburg, Freiburg, Germany
    Int Arch Allergy Immunol 147:147-51. 2008
    ..Among them is the X-linked lymphoproliferative syndrome (XLP) which was shown to be caused by either mutations in the gene SH2D1a/SAP or, more recently, in the BIRC4/XIAP gene...
  14. ncbi request reprint Monogenetic defects in common variable immunodeficiency: what can we learn about terminal B cell differentiation?
    Ulrich Salzer
    Clinical Immunology and Rheumatology, Medical Center, University of Freiburg, Freiburg, Germany
    Curr Opin Rheumatol 18:377-82. 2006
    ..In this review we will summarize the current progress in the molecular genetics of common variable immunodeficiency and put them in context with other important developments in the field...
  15. doi request reprint B-cell biology and development
    Kathrin Pieper
    Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Faculty of Biology, Albert Ludwigs Universitat, Freiburg, Germany
    J Allergy Clin Immunol 131:959-71. 2013
    ..The rapid progress of functional genomic research is expected to foster the development of new tools that specifically target dysfunctional B lymphocytes to treat autoimmunity, B-cell malignancies, and immunodeficiency...
  16. ncbi request reprint Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
    Bodo Grimbacher
    Division of Rheumatology and Clinical Immunology, Medical School, University of Freiburg, Hugstetterstr 55, 79106 Freiburg, Germany
    Nat Immunol 4:261-8. 2003
    ..The phenotype of human ICOS deficiency, which differs in key aspects from that of the ICOS-/- mouse, suggests a critical involvement of ICOS in T cell help for late B cell differentiation, class-switching and memory B cell generation...
  17. doi request reprint [The ESID Online Database for primary immunodeficiencies. First analyses with regard to Germany and Europe]
    Viviane Knerr
    Abteilung Rheumatologie und Klinische Immunologie, Universitatsklinik Freiburg, Hugstetter Strasse 55, Freiburg, Germany
    Med Klin (Munich) 103:620-7. 2008
    ..It comprises a common core dataset for 212 PIDs and large disease-specific data models for 33 diseases. These can be used for international studies on these cohorts...
  18. doi request reprint Disturbed canonical nuclear factor of κ light chain signaling in B cells of patients with common variable immunodeficiency
    Baerbel Keller
    Center for Chronic Immunodeficiency, University Medical Center and University of Freiburg, Freiburg, Germany
    J Allergy Clin Immunol . 2016
    ..Altered B-cell receptor (BCR) signaling might contribute to the defective memory formation observed in patients with CVID...
  19. ncbi request reprint TACItly changing tunes: farewell to a yin and yang of BAFF receptor and TACI in humoral immunity? New genetic defects in common variable immunodeficiency
    Ulrich Salzer
    Department of Clinical Immunology and Rheumatology, Medical Center, University of Freiburg, Freiburg, Germany
    Curr Opin Allergy Clin Immunol 5:496-503. 2005
    ..The primarily immunodeficient phenotype of human TACI deficiency, however, claims a distinct function of this receptor in human peripheral B-cell development, class switch recombination and terminal differentiation...
  20. ncbi request reprint To switch or not to switch--the opposing roles of TACI in terminal B cell differentiation
    Ulrich Salzer
    Division of Rheumatology and Clinical Immunology, Medical School, University Hospital Freiburg, Freiburg, Germany
    Eur J Immunol 37:17-20. 2007
    ..Defining the exact contribution of TACI stimulation by specific triggers in vitro enables us to better understand the complex, context-dependent responses initiated by TACI in vivo...
  21. ncbi request reprint ICOS deficiency in patients with common variable immunodeficiency
    Ulrich Salzer
    Division of Rheumatology and Clinical Immunology, University of Freiburg, 79106 Freiburg, Germany
    Clin Immunol 113:234-40. 2004
    ..Worldwide, there are now a total of nine patients diagnosed with ICOS deficiency most likely due to a common founder. ICOS-L deficiency could not be identified in families with AR-CVID...
  22. ncbi request reprint The hyper-IgE syndrome is not caused by a microdeletion syndrome
    Dietmar Pfeifer
    Department of Hematology and Oncology, University Hospital Freiburg, Hugstetterstrasse 55, 79106, Freiburg, Germany
    Immunogenetics 59:913-26. 2007
    ..Sequencing of the healthy allele, however, revealed a wild-type sequence. In summary, our results suggest that HIES is not likely to be a microdeletion syndrome...
  23. doi request reprint Clinical picture and treatment of 2212 patients with common variable immunodeficiency
    Benjamin Gathmann
    Center for Chronic Immunodeficiency CCI, University Medical Centre Freiburg and University of Freiburg, Freiburg, Germany
    J Allergy Clin Immunol 134:116-26. 2014
    ..The main features include respiratory tract infections and their associated complications, enteropathy, autoimmunity, and lymphoproliferative disorders...
  24. pmc Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
    Johannes Jung
    Division of Rheumatology and Clinical Immunology, Medical Center, Freiburg University Hospital, Germany
    Blood 108:362-9. 2006
    ..Our findings extend the clinical and molecular phenotype of human AP-3 deficiency (also known as Hermansky-Pudlak syndrome, type 2) and provide further insights into the role of the AP-3 complex for the innate immune system...
  25. ncbi request reprint Common variable immunodeficiency: The power of co-stimulation
    Ulrich Salzer
    Department of Clinical Immunology and Rheumatology, Medical Center, University of Freiburg, Hugstetterstr 55, 79106 Freiburg, Germany
    Semin Immunol 18:337-46. 2006
    ....
  26. doi request reprint Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency
    Johanna Schepp
    CCI Center for Chronic Immunodeficiency, Universitatsklinikum Freiburg, Engesserstraße 4, 79108, Freiburg, Germany
    J Clin Immunol 36:179-86. 2016
    ..Determining the monogenic cause of antibody deficiency and immune dysregulation in a non-consanguineous family with healthy parents, two affected children, and one unaffected child...
  27. pmc DCLRE1C (ARTEMIS) mutations causing phenotypes ranging from atypical severe combined immunodeficiency to mere antibody deficiency
    Timo Volk
    Center for Chronic Immunodeficiency CCI, University Medical Center Freiburg and University of Freiburg, Freiburg, Germany
    Hum Mol Genet 24:7361-72. 2015
    ..Clinicians should consider the possibility that an immunodeficiency with a clinically mild initial presentation could be a combined immunodeficiency, so as to provide appropriate care for affected patients. ..
  28. ncbi request reprint Sequence analysis of TNFRSF13b, encoding TACI, in patients with systemic lupus erythematosus
    Ulrich Salzer
    Department of Rheumatology and Clinical Immunology, University Medical Center Freiburg, Hugstetterstr 55, 79106 Freiburg, Germany
    J Clin Immunol 27:372-7. 2007
    ..Furthermore, the mutated alleles R20C and R72H did not segregate with the SLE phenotype in familial cases of SLE. Thus, our evaluation of the coding region of TNFRSF13b/TACI did not reveal any deleterious or disease-associated mutations...
  29. doi request reprint Inflammatory bowel disease: is it a primary immunodeficiency?
    Erik Glocker
    Institute of Medical Microbiology and Hygiene, University Medical Centre Freiburg, Hermann Herder Str 11, 79104 Freiburg, Germany
    Cell Mol Life Sci 69:41-8. 2012
    ....
  30. pmc Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q
    Alejandro A Schäffer
    Department of Health and Human Services, National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bldg 38A Rm 6S608 8600 Rockville Pike, Bethesda, MD 20894, USA
    Hum Genet 118:725-9. 2006
    ..83 at theta=0.07, and a 4-marker LOD score under heterogeneity peaks at 3.00 with alpha=0.68. The (model-free) NPL score using the same markers peaks at the same location with a value of 3.38 (P=0.0001)...
  31. ncbi request reprint An antibody-deficiency syndrome due to mutations in the CD19 gene
    Menno C van Zelm
    Department of Immunology, Erasmus MC, The Netherlands
    N Engl J Med 354:1901-12. 2006
    ..The CD19 protein forms a complex with CD21, CD81, and CD225 in the membrane of mature B cells. Together with the B-cell antigen receptor, this complex signals the B cell to decrease its threshold for activation by the antigen...
  32. pmc Reexamining the role of TACI coding variants in common variable immunodeficiency and selective IgA deficiency
    Qiang Pan-Hammarstrom
    Nat Genet 39:429-30. 2007
  33. ncbi request reprint Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity
    Eleonore D Renner
    Department of Infectious Diseases and Clinical Immunology, University Children s Hospital, Dr v Haunersches Kinderspital, Munich, Germany
    J Pediatr 144:93-9. 2004
    ..The autosomal-dominant form of the hyperimmunoglobulin E syndrome (AD-HIES) has been described as a multisystem disorder including immune, skeletal, and dental abnormalities. Variants of AD-HIES are known but not well defined...
  34. pmc Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
    Cindy S Ma
    Immunology and Inflammation Program, Garvan Institute of Medical Research, Darlinghurst 2010, Australia
    J Exp Med 205:1551-7. 2008
    ..Furthermore, they underscore the importance of Th17 responses in normal host defense against the common pathogens S. aureus and C. albicans...
  35. doi request reprint Common variable immunodeficiency: an update on etiology and management
    Patrick F K Yong
    Department of Clinical Immunology, Kings College Hospital, London SE5 9RS, UK
    Immunol Allergy Clin North Am 28:367-86, ix-x. 2008
    ..Significant delays in diagnosis remain, however. It is likely that more genetic defects will be identified in the future, further shrinking the pool of patients who have CVID of unknown cause...
  36. ncbi request reprint Common variable immunodeficiency in children
    Erik Glocker
    Department of Immunology and Molecular Pathology, University College London Royal Free Hospital, London, UK
    Curr Opin Pediatr 19:685-92. 2007
    ..We present the different clinical phenotypes of common variable immunodeficiency, review recent genetic findings and point to current treatment strategies...
  37. ncbi request reprint STAT3 mutations in the hyper-IgE syndrome
    Steven M Holland
    National Institute of Allergy and Infectious Diseases, Bethesda, MD 20892, USA
    N Engl J Med 357:1608-19. 2007
    ..Inheritance is autosomal dominant; sporadic cases are also found...
  38. ncbi request reprint Deconstructing common variable immunodeficiency by genetic analysis
    Alejandro A Schäffer
    National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Department of Heath and Human Services, 8600 Rockvile Pike, Bethesda, MD 20894, USA
    Curr Opin Genet Dev 17:201-12. 2007
    ..These findings markedly improved the genetic diagnosis of CVID and point towards new strategies for future genetic studies. In addition, some CVID genes might be relevant to more common diseases such as asthma and stroke...
  39. ncbi request reprint Mutational analysis of human BLyS in patients with common variable immunodeficiency
    Claretta Gioia Losi
    Istituto di Medicina Molecolare Angelo Nocivelli, Clinica Pediatrica, Universita di Brescia, Piazzale Spedali Civili 1, 25123, Brescia, Italy
    J Clin Immunol 26:396-9. 2006
    ..A novel heterozygous single nucleotide polymorphism (SNP) was found in exon 1 of one individual, however this SNP (G189A) does not lead to an amino acid substitution...
  40. ncbi request reprint A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
    Georg Bohn
    Department of Pediatric Hematology Oncology Carl Hannover Medical School, Carl Neuberg Strasse 1 D 30625 Hannover, Germany
    Nat Med 13:38-45. 2007
    ..These findings have implications for understanding endosomal membrane dynamics, compartmentalization of cell signal cascades, and their role in immunity...
  41. ncbi request reprint HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
    Christoph Klein
    Department of Pediatric Hematology Oncology, Hannover Medical School, Carl Neuberg Strasse 1, 30625 Hannover, Germany
    Nat Genet 39:86-92. 2007
    ..Our findings suggest that HAX1 is a major regulator of myeloid homeostasis and underline the significance of genetic control of apoptosis in neutrophil development...
  42. doi request reprint Lymphoma in common variable immunodeficiency: interplay between immune dysregulation, infection and genetics
    Ignatius Chua
    UCL Immunology Consortium, Royal Free Hospital and University College London, London, UK
    Curr Opin Hematol 15:368-74. 2008
    ..This review discusses the latest insights into common variable immunodeficiency and uses common variable immunodeficiency as a model to examine the links between immunodeficiency and chronic infections in causing lymphoma...