Hans D Ochs

Summary

Affiliation: University of Washington
Country: USA

Publications

  1. doi request reprint Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Children s Hospital and Regional Medical Center, Seattle Children s Hospital Research Institute, Seattle, Washington 98101, USA
    Ann Allergy Asthma Immunol 100:509-11. 2008
  2. doi request reprint History of primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine and Seattle Children s Research Institute, Seattle, Washington 98101, USA
    Curr Opin Allergy Clin Immunol 12:577-87. 2012
  3. doi request reprint Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
    Immunol Res 44:84-8. 2009
  4. ncbi request reprint Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98107, USA
    J Clin Immunol 26:265-73. 2006
  5. ncbi request reprint The Wiskott-Aldrich syndrome
    Hans D Ochs
    University of Washington, School of Medicine, Seattle 98195, USA
    J Allergy Clin Immunol 117:725-38; quiz 739. 2006
  6. pmc TH17 cells and regulatory T cells in primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine and Seattle Children s Hospital, Seattle, Wash 98101, USA
    J Allergy Clin Immunol 123:977-83; quiz 984-5. 2009
  7. ncbi request reprint The Wiskott-Aldrich syndrome
    Hans D Ochs
    Department of Pediatrics, and Division of Immunology, Infectious Disease and Rheumatology, University of Washington School of Medicine, Seattle, WA, USA
    Isr Med Assoc J 4:379-84. 2002
  8. ncbi request reprint Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression
    Hans D Ochs
    University of Washington, Seattle, WA, USA
    Adv Exp Med Biol 601:27-36. 2007
  9. ncbi request reprint X-linked immunodeficiencies
    Hans D Ochs
    Department of Pediatrics, University of Washington, Children s Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA
    Curr Allergy Asthma Rep 4:339-48. 2004
  10. ncbi request reprint IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity
    Hans D Ochs
    Division of Immunology, Infectious Diseases, Rheumatology, Children s Hospital and University of Washington, 307 Westlake Ave North, Suite 300 CW, Seattle, WA 98109, USA
    Immunol Res 38:112-21. 2007

Research Grants

Detail Information

Publications78

  1. doi request reprint Patients with abnormal IgM levels: assessment, clinical interpretation, and treatment
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Children s Hospital and Regional Medical Center, Seattle Children s Hospital Research Institute, Seattle, Washington 98101, USA
    Ann Allergy Asthma Immunol 100:509-11. 2008
  2. doi request reprint History of primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine and Seattle Children s Research Institute, Seattle, Washington 98101, USA
    Curr Opin Allergy Clin Immunol 12:577-87. 2012
    ....
  3. doi request reprint Mutations of the Wiskott-Aldrich Syndrome Protein affect protein expression and dictate the clinical phenotypes
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA
    Immunol Res 44:84-8. 2009
    ..However, because there are exceptions to this rule it is difficult to predict the long-term prognosis of a given affected boy solely based on the analysis of WASP expression...
  4. ncbi request reprint Safety and efficacy of self-administered subcutaneous immunoglobulin in patients with primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington 98107, USA
    J Clin Immunol 26:265-73. 2006
    ..No treatment-related serious adverse events were reported. We conclude that subcutaneous administration of 16% SCIg is a safe and effective alternative to IVIg for replacement therapy of PIDD...
  5. ncbi request reprint The Wiskott-Aldrich syndrome
    Hans D Ochs
    University of Washington, School of Medicine, Seattle 98195, USA
    J Allergy Clin Immunol 117:725-38; quiz 739. 2006
    ....
  6. pmc TH17 cells and regulatory T cells in primary immunodeficiency diseases
    Hans D Ochs
    Department of Pediatrics, University of Washington School of Medicine and Seattle Children s Hospital, Seattle, Wash 98101, USA
    J Allergy Clin Immunol 123:977-83; quiz 984-5. 2009
    ..These observations emphasize the importance of functionally distinct T-cell lineages in maintaining a balanced innate and cognate immune system...
  7. ncbi request reprint The Wiskott-Aldrich syndrome
    Hans D Ochs
    Department of Pediatrics, and Division of Immunology, Infectious Disease and Rheumatology, University of Washington School of Medicine, Seattle, WA, USA
    Isr Med Assoc J 4:379-84. 2002
  8. ncbi request reprint Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression
    Hans D Ochs
    University of Washington, Seattle, WA, USA
    Adv Exp Med Biol 601:27-36. 2007
    ..Although symptomatic therapy with immunosuppressive drugs provides some beneficial effects, the only curative treatment is hematopoietic stem cell transplantation...
  9. ncbi request reprint X-linked immunodeficiencies
    Hans D Ochs
    Department of Pediatrics, University of Washington, Children s Hospital and Regional Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, USA
    Curr Allergy Asthma Rep 4:339-48. 2004
    ..Additionally, gene therapy has been attempted in X-linked severe combined immune deficiency (XSCID), with clear evidence of successful correction of the pathology, and the appearance of severe adverse effects...
  10. ncbi request reprint IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity
    Hans D Ochs
    Division of Immunology, Infectious Diseases, Rheumatology, Children s Hospital and University of Washington, 307 Westlake Ave North, Suite 300 CW, Seattle, WA 98109, USA
    Immunol Res 38:112-21. 2007
    ....
  11. ncbi request reprint Wiskott-Aldrich syndrome
    Luigi D Notarangelo
    Division of Immunology, Children s Hospital, Harvard Medical School, Boston, MA, USA
    Curr Opin Hematol 15:30-6. 2008
    ..This review will focus on recent progress in understanding the molecular basis of Wiskott-Aldrich syndrome and its ramifications for the cure of this lethal disease...
  12. pmc Immunomodulation of transgene responses following naked DNA transfer of human factor VIII into hemophilia A mice
    Carol H Miao
    Children s Hospital and Regional Medical Center, Department of Pediatrics, University of Washington, Seattle, WA 98109, USA
    Blood 108:19-27. 2006
    ....
  13. pmc CD4+FOXP3+ regulatory T cells confer long-term regulation of factor VIII-specific immune responses in plasmid-mediated gene therapy-treated hemophilia mice
    Carol H Miao
    Seattle Children s Research Institute, Seattle, WA 98101, USA
    Blood 114:4034-44. 2009
    ..Antigen-specific Tregs can provide long-lasting protection against immune responses in vivo and limit recall responses induced by a second challenge via infectious tolerance...
  14. pmc Primary immunodeficiencies: 2009 update
    Luigi D Notarangelo
    Division of Immunology, Children s Hospital Boston and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA
    J Allergy Clin Immunol 124:1161-78. 2009
    ..Careful analysis and prompt recognition of these disorders is essential to prompt effective forms of treatment and thus to improve survival and quality of life in patients affected with PIDs...
  15. pmc Anti-CD3 antibodies modulate anti-factor VIII immune responses in hemophilia A mice after factor VIII plasmid-mediated gene therapy
    Baowei Peng
    Department of Pediatrics, Seattle Children s Research Institute and University of Washington, Seattle, WA 98101, USA
    Blood 114:4373-82. 2009
    ..Furthermore, anti-CD3 can reduce the titers of preexisting anti-FVIII inhibitory antibodies in hemophilia A mice...
  16. pmc Transient blockade of the inducible costimulator pathway generates long-term tolerance to factor VIII after nonviral gene transfer into hemophilia A mice
    Baowei Peng
    Department of Pediatrics, Seattle Children s Hospital Research Institute and University of Washington, Seattle, WA 98101, USA
    Blood 112:1662-72. 2008
    ..Our data indicate that transient anti-ICOS monoclonal antibody treatment represents a novel single-agent immunomodulatory strategy to overcome the immune responses against transgene product after gene therapy...
  17. pmc Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    LAURI M BURROUGHS
    Fred Hutchinson Cancer Research Center, Seattle, Wash 98109 1024, USA
    J Allergy Clin Immunol 126:1000-5. 2010
    ..Hematopoietic cell transplantation is currently the only viable option for long-term survival, but patients are frequently very ill and may not tolerate traditional myeloablative conditioning regimens...
  18. ncbi request reprint A potential screening tool for IPEX syndrome
    Meredith Lee Heltzer
    Division of Allergy and Immunology, Department of Pediatrics, University of Pennsylvania School of Medicine, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Pediatr Dev Pathol 10:98-105. 2007
    ..This screening test provides a valuable tool for diagnosing IPEX syndrome in extremely ill patients who may not tolerate a delay in therapeutic intervention...
  19. pmc Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development
    Marc A Gavin
    Department of Immunology and Howard Hughes Medical Institute, University of Washington, Box 357370, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 103:6659-64. 2006
    ..This observation raises the possibility that the severe autoimmunity in FOXP3 deficiency can be attributed, in part, to aggressive T helper cells that have developed from T(R) precursors...
  20. ncbi request reprint Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome
    Wen I Lee
    Department of Pediatrics, University of Washington, School of Medicine, Children s Hospital and Regional Medical Center, 307 Westlake Ave N, Suite 300, Seattle, WA 98109, USA
    Blood 105:1881-90. 2005
    ....
  21. doi request reprint A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy
    Lena F Schimke
    Department of Pediatrics, University of Washington and Seattle Children s Research Institute, Seattle, WA 98101 1304, USA
    J Clin Immunol 33:1088-99. 2013
    ..M37K substitution affects NF-κB activation by interfering with IκB-α degradation, thus impairing NF-κB signaling and causing the EDA-ID phenotype...
  22. pmc Ubiquitous high-level gene expression in hematopoietic lineages provides effective lentiviral gene therapy of murine Wiskott-Aldrich syndrome
    Alexander Astrakhan
    Department of Immunology, University of Washington School of Medicine, Seattle, WA 98101, USA
    Blood 119:4395-407. 2012
    ..Our findings identify the advantages and disadvantages associated with each vector and suggest further clinical development of the MND-huWASp LV for a future clinical trial for WAS...
  23. ncbi request reprint Analysis of FOXP3 reveals multiple domains required for its function as a transcriptional repressor
    Jared E Lopes
    Benaroya Research Institute, Virginia Mason, Seattle, WA 98101, USA
    J Immunol 177:3133-42. 2006
    ..Furthermore, we demonstrate that IPEX mutations in these domains correlate with deficiencies in FOXP3 repressor function, corroborating their in vivo relevance...
  24. ncbi request reprint Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene
    Troy R Torgerson
    University of Washington and Children s Hospital, Department of Pediatrics, Division of Immunology, Rheumatology, and Infectious Diseases, Seattle, Washington, USA
    Gastroenterology 132:1705-17. 2007
    ..In the present work, we aimed to uncover the molecular basis of a distinct form of IPEX syndrome presenting at the edge of autoimmunity and severe allergy...
  25. pmc Wiskott-Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells
    Alexander Astrakhan
    Department of Immunology, University of Washington School of Medicine and Seattle Children s Research Institute, Seattle, WA 98101, USA
    J Immunol 182:7370-80. 2009
    ..Our findings highlight the crucial role for WASp in iNKT development, homeostasis, and activation, and identify iNKT dysfunction as an additional factor likely to contribute to the clinical features observed in WAS patients...
  26. pmc FOXP3 inhibits activation-induced NFAT2 expression in T cells thereby limiting effector cytokine expression
    Troy R Torgerson
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital, Seattle, WA 98109, USA
    J Immunol 183:907-15. 2009
    ....
  27. ncbi request reprint The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappa B (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement
    Winifred Huang
    Department of Pediatrics, Memorial Sloan Kettering Cancer Center, Sloan Kettering Institute for Cancer Research, New York, NY 10021, USA
    J Immunol 174:2602-11. 2005
    ..Our results indicate that WASp independently regulates its dual functions, i.e., actin cytoskeletal remodeling and transcription in NK cells...
  28. ncbi request reprint Structure and function of the Wiskott-Aldrich syndrome protein
    Hans D Ochs
    Departments of Pediatrics, University of Washington, Seattle, Washington 98109, USA
    Curr Opin Hematol 12:284-91. 2005
    ..The responsible gene, WASP, has multiple domains, each with unique functions that were only recently fully recognized...
  29. ncbi request reprint FOXP3 acts as a rheostat of the immune response
    Hans D Ochs
    University of Washington and Children s Hospital Regional Medical Center, Seattle, WA, USA
    Immunol Rev 203:156-64. 2005
    ....
  30. ncbi request reprint Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: forkhead box protein 3 mutations and lack of regulatory T cells
    Troy R Torgerson
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital and Regional Medical Center, Seattle, Wash, USA
    J Allergy Clin Immunol 120:744-50; quiz 751-2. 2007
    ..We are hopeful that the knowledge gained about mechanisms that regulate FOXP3 expression and Treg function will have a major effect on how other autoimmune and allergic disorders are approached...
  31. pmc Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient
    Ping Liu
    Department of Pediatrics, University of Washington and Seattle Children s Hospital Research Institute, Seattle, WA, USA
    Clin Immunol 130:162-74. 2009
    ....
  32. ncbi request reprint Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation
    YinZhu Jin
    Department of Pediatrics, University of Washington, Seattle, WA 98109, USA
    Blood 104:4010-9. 2004
    ..By analyzing a large number of patients with WAS/XLT at the molecular level we identified 5 mutational hotspots in the WASP gene and have been able to establish a strong association between genotype and phenotype...
  33. ncbi request reprint Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: a model of immune dysregulation
    Troy R Torgerson
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital Regional Medical Center, Seattle, 98195, USA
    Curr Opin Allergy Clin Immunol 2:481-7. 2002
    ..We examine therapeutic options to treat the syndrome, study its immunologic basis, and investigate the structure and function of the FOXP3 protein...
  34. ncbi request reprint Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis
    Eleonora Gambineri
    Department of Pediatrics, Division of Immunology, Rheumatology and Infectious Diseases, University of Washington, Seattle, Washington, USA, and Department of Pediatrics, A Meyer Children s Hospital, University of Florence, Florence, Italy
    Curr Opin Rheumatol 15:430-5. 2003
    ..This review describes the clinical features of IPEX and the structure, function, and known mutations of FOXP3 that provide important insights into its role in maintenance of immune homeostasis...
  35. pmc WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP)
    Miguel A de la Fuente
    Division of Immunology, Children s Hospital Boston, One Blackfan Circle, Boston, MA 02115, USA
    Proc Natl Acad Sci U S A 104:926-31. 2007
    ..These results demonstrate that WIP stabilizes WASP and suggest that it may also be important for its function...
  36. ncbi request reprint Regulatory T cells in primary immunodeficiency diseases
    Troy R Torgerson
    Division of Pediatric Immunology, Rheumatology and Infectious Diseases, University of Washington School of Medicine, Children s Hospital, Seattle, Washington, USA
    Curr Opin Allergy Clin Immunol 7:515-21. 2007
    ..Here, we review the role of regulatory T-cell deficits in mediating the immune dysregulation associated with certain primary immune deficiency disorder syndromes...
  37. pmc Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
    Raif S Geha
    Division of Immunology, Children s Hospital, Boston, MA 02115, USA
    J Allergy Clin Immunol 120:776-94. 2007
    ..In its last meeting in Jackson Hole, Wyo, after 3 days of intense scientific presentations and discussions, the committee has updated the classification of PID, as reported in this article...
  38. doi request reprint Controversies in IgG replacement therapy in patients with antibody deficiency diseases
    Erwin W Gelfand
    Division of Cell Biology, Department of Pediatrics, National Jewish Health, Denver, CO, USA
    J Allergy Clin Immunol 131:1001-5. 2013
    ..We hope to refocus the discussion on identifying clear laboratory and clinical guidelines for the establishment of an accurate diagnosis of antibody deficiency, its rationale, and, where indicated, institution of safe treatment...
  39. pmc DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation
    Haifa H Jabara
    Division of Immunology, Children s Hospital and Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA
    Nat Immunol 13:612-20. 2012
    ..Thus, DOCK8 functions as an adaptor in a TLR9-MyD88 signaling pathway in B cells...
  40. ncbi request reprint Familial hemophagocytic lymphohistiocytosis in two brothers with X-linked agammaglobulinemia
    Kris Ann P Schultz
    Division of Hematology Oncology and Blood and Marrow Transplantation, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA
    Pediatr Blood Cancer 51:293-5. 2008
    ..Further studies revealed absence of Bruton's tyrosine kinase (BTK) protein expression and a novel BTK mutation...
  41. ncbi request reprint Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment
    Ulrike H M Ziegner
    Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, USA
    Clin Immunol 102:19-24. 2002
    ..To help determine the etiology of this rare complication, an international surveillance system for primary immunodeficiency patients who develop progressive neurodegeneration of unknown cause is recommended...
  42. ncbi request reprint Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis
    Wen I Lee
    School of Medicine, University of Washington, Seattle 98195 6320, USA
    J Allergy Clin Immunol 112:958-64. 2003
    ..In a substantial subgroup of HIGM patients, these 4 genes are normal, and the genetic defect is unknown...
  43. doi request reprint Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment
    Hans D Ochs
    Department of Pediatrics, University of Washington, Seattle, Washington, USA
    Biol Blood Marrow Transplant 15:84-90. 2009
    ..The issue of whether mixed chimerism post-HCT (which has a higher incidence in RIC transplantation) is associated with increased autoimmune manifestations in patients with WAS remains to be resolved...
  44. doi request reprint Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome
    Ellen D Renner
    Department of Pediatrics, University of Washington School of Medicine and Children s Hospital and Regional Medical Center, Seattle, Wash 98101 1304, USA
    J Allergy Clin Immunol 122:181-7. 2008
    ..Recently it was shown that heterozygous signal transducer and activator of transcription 3 (STAT3) mutations cause autosomal-dominant HIES...
  45. ncbi request reprint Images in immunodeficiency
    William T Shearer
    Department of Pediatrics, Baylor College of Medicine and Texas Children s Hospital, Houston, TX 77030, USA
    J Allergy Clin Immunol 120:982-4. 2007
  46. ncbi request reprint Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome
    Michael H Albert
    aDepartment of Pediatric Hematology Oncology, Dr von Haunersches Kinderspital der Ludwig Maximilians Universität, Munich, Germany bThe Manton Center for Orphan Disease Research and the Division of Immunology, Children s Hospital, Harvard Medical School, Boston, Massachusetts, USA cDepartment of Pediatrics, University of Washington, and Seattle Children s Research Institute, Center for Immunity and Immunotherapy, Seattle, Washington, USA
    Curr Opin Hematol 18:42-8. 2011
    ..This review focuses on recent developments in the understanding of its basic pathophysiology, diverse clinical phenotypes and optimal patient management including novel therapies...
  47. ncbi request reprint Naked DNA transfer of Factor VIII induced transgene-specific, species-independent immune response in hemophilia A mice
    Peiqing Ye
    Department of Pediatrics and Department of Medicine, University of Washington, Seattle, WA 98195, USA
    Mol Ther 10:117-26. 2004
    ..Consistent with this idea, in a separate group of mice treated with pBS-HCRHPI-FVIIIA, transient immunosuppression by cyclophosphamide significantly delayed (5/6) or abolished (1/6) inhibitory antibody formation against the transgene...
  48. ncbi request reprint Octagam 5%, an intravenous IgG product, is efficacious and well tolerated in subjects with primary immunodeficiency diseases
    Hans D Ochs
    University of Washington, Seattle, Washington, USA
    J Clin Immunol 24:309-14. 2004
    ..In addition, Octagam had a T (1/2) (IgG) comparable with published data, and was well tolerated. Octagam treatment is safe and resulted in 0.1 serious infections/subject/year in primary immunodeficient subjects...
  49. pmc Subcutaneous immunoglobulin replacement therapy in the treatment of patients with primary immunodeficiency disease
    Suzanne Skoda-Smith
    Seattle Children s Research Institute and Department of Pediatrics, University of Washington, Seattle, Washington
    Ther Clin Risk Manag 6:1-10. 2010
    ..SCIg as replacement therapy for patients with primary antibody deficiencies is a safe and efficacious method to prevent serious bacterial infections, while maximizing patient satisfaction and improving quality of life...
  50. ncbi request reprint Survival of wild polio by a patient with XLA
    Sampson Sarpong
    Department of Pediatrics, Johns Hopkins University, School of Medicine, Baltimore, Maryland, USA
    Ann Allergy Asthma Immunol 88:59-60. 2002
    ..Systemic enterocytopathogenic human orphan virus (ECHO), coxsackie virus, and vaccine-related polio infections have caused severe morbidity and high mortality rates in XLA patients...
  51. ncbi request reprint WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype
    Kohsuke Imai
    INSERM The French Institute of Health and Medical Research U429, Hopital Necker Enfants Malades, Paris, France
    Curr Opin Allergy Clin Immunol 3:427-36. 2003
    ..In this review we will focus on recent molecular findings that provide a better understanding of the pathogenesis of this complex disease and explore the correlation of genotype and clinical phenotype...
  52. ncbi request reprint Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation
    Luigi D Notarangelo
    Department of Pediatrics, University of Brescia, Spedali Civili, 25123 Brescia
    Curr Opin Immunol 15:585-91. 2003
    ..Mutation analysis of large cohorts of WAS/X-linked thrombocytopenia patients has provided evidence for a strong correlation between phenotype and genotype...
  53. ncbi request reprint Clinical course of patients with WASP gene mutations
    Kohsuke Imai
    Department of Pediatrics and Developmental Biology, Graduate School of Medicine, Tokyo Medical and Dental University, 1 5 45, Yushima, Bunkyo ku, Tokyo, 113 8519, Japan
    Blood 103:456-64. 2004
    ..Based on data presented here, hematopoietic stem cell transplantation should be considered, especially for WASP-negative patients, while the patients are young to improve prognosis...
  54. ncbi request reprint Functional analysis of human memory B-cell subpopulations: IgD+CD27+ B cells are crucial in secondary immune response by producing high affinity IgM
    Yuhui Shi
    Department of Infectious Immunology, Shinshu University, Graduate School of Medicine, Asahi 3 1 1, 390 8621, Matsumoto, Japan
    Clin Immunol 108:128-37. 2003
    ....
  55. ncbi request reprint Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome)
    Lutz Bindl
    Children s Hospital Medical Center, University of Bonn, Germany
    J Pediatr 147:256-9. 2005
    ..We report the successful use of sirolimus in 3 patients with IPEX. The efficacy of sirolimus is probably due to its different mode of action compared to calcineurin-dependent agents...
  56. ncbi request reprint [X-linked hyper-IGM syndrome associated to sclerosing cholangitis and gallbladder neoplasm: clinical case]
    Cristián Rodríguez
    Laboratorio de Inmunologia, Facultad de Medicina, Universidad de Los Andes, San Carlos de Apoquindo 2200, Las Condes, Santiago, Chile
    Rev Med Chil 131:303-8. 2003
    ..Three years after diagnosis, we detected the presence of polyps inside the gallbladder that were reported at biopsy as adenocarcinoma. He underwent hepatic bisegmentectomy (VI B-V) and local lymphadenectomy...
  57. ncbi request reprint Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
    Lucia D Notarangelo
    Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy
    Blood 99:2268-9. 2002
    ..This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number...
  58. ncbi request reprint Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
    David S Nieves
    Department of Dermatology, University of Rochester, Rochester, NY, USA
    Arch Dermatol 140:466-72. 2004
    ..If untreated, affected males die early in life from malabsorption and other complications. To our knowledge, this syndrome has never been described in the dermatology literature...
  59. ncbi request reprint Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home
    Uwe Nicolay
    Section of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital, Stockholm, Sweden
    J Clin Immunol 26:65-72. 2006
    ..Treatment satisfaction was significantly improved in Group A. The preference for the subcutaneous route and for home therapy was respectively 81% and 90% in Group A. In Group B, 69% preferred the subcutaneous route and 92% home therapy...
  60. ncbi request reprint Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations
    Tatsuya Fuchizawa
    Department of Pediatrics, Graduate School of Medicine, University of Toyama, 2630 Sugitani, Toyama 930 0194, Japan
    Clin Immunol 125:237-46. 2007
    ..This observation suggests a possible genotype-phenotype correlation in IPEX...
  61. ncbi request reprint WASP and the phenotypic range associated with deficiency
    Luigi D Notarangelo
    Department of Pediatrics and Angelo Nocivelli Institute for Molecular Medicine, University of Brescia, Spedali Civili, Brescia, Italy
    Curr Opin Allergy Clin Immunol 5:485-90. 2005
    ..Advances in preclinical models of gene therapy for WAS are presented...
  62. doi request reprint Effect of therapeutic integrin (CD11a) blockade with efalizumab on immune responses to model antigens in humans: results of a randomized, single blind study
    James G Krueger
    Laboratory for Investigative Dermatology, Rockefeller University, New York, New York 10065, USA
    J Invest Dermatol 128:2615-24. 2008
    ..These results expand our knowledge of how immune responses are modulated in humans by CD11a blockade and have implications for vaccinations of patients treated with this agent...
  63. doi request reprint Restricted immunoglobulin constant heavy G chain genes in primary immunodeficiencies
    Vivi Anne Oxelius
    Department of Pediatrics and Institute of Clinical Immunology, University Hospital, Lund University, SE 221 85 Lund, Sweden
    Clin Immunol 128:190-8. 2008
    ..3 and OR 2.8 respectively). Restricted IGHG genes, restricted IgG allotypes (Fc domains) and restricted B cells are significant in PIDs for diagnosis, treatment and pathogenetic mechanisms...
  64. pmc CD40 ligand and MHC class II expression are essential for human peripheral B cell tolerance
    Maxime Hervé
    Laboratory of Biochemistry and Molecular Immunology, Hospital for Special Surgery, New York, NY 10021, USA
    J Exp Med 204:1583-93. 2007
    ..The decreased frequency of MHC class II-restricted CD4(+) regulatory T cells in CD40L-deficient patients suggests that these T cells may mediate peripheral B cell tolerance through CD40L-CD40 and MHC class II-TCR interactions...
  65. ncbi request reprint X-linked agammaglobulinemia in northern Thailand
    Muthita Trakultivakorn
    Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
    Asian Pac J Allergy Immunol 24:57-63. 2006
    ..One patient died of sepsis at the age of 16 years. These observations demonstrate that early diagnosis and treatment can improve prognosis and quality of life...
  66. ncbi request reprint Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement
    Alessandro Aiuti
    Nat Med 8:423-5. 2002
  67. ncbi request reprint Absence of memory B cells in patients with common variable immunodeficiency
    Kazunaga Agematsu
    Department of Infectious Immunology, Graduate School of Medicine, Matsumoto, Shinshu University, Japan
    Clin Immunol 103:34-42. 2002
    ....
  68. ncbi request reprint Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia
    Cornelia Brunner
    Children s Hospital, University of Wurzburg, Germany
    J Clin Immunol 22:244-51. 2002
    ..We cannot exclude that these B cells belong to a "leaky" B-cell subpopulation in which the CD40 signaling pathway has become independent of Btk function...
  69. ncbi request reprint X-linked agammaglobulinemia: report on a United States registry of 201 patients
    Jerry A Winkelstein
    United States Immune Deficiency Network, Immune Deficiency Foundation, Johns Hopkins University School of Medicine, Baltimore, MD, USA
    Medicine (Baltimore) 85:193-202. 2006
    ....
  70. ncbi request reprint Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families
    Norimoto Kobayashi
    Department of Pediatrics, Shinshu University School of Medicine, Asahi 3 1 1, 390 8621 Matsumoto, Japan
    Hum Genet 112:348-52. 2003
    ....
  71. pmc Transcellular diapedesis is initiated by invasive podosomes
    Christopher V Carman
    The CBR Institute for Biomedical Research, Department of Pathology, Harvard Medical School, Boston, MA 02115, USA
    Immunity 26:784-97. 2007
    ..These findings provide insights into basic mechanisms for leukocyte trafficking and the functions of podosomes...
  72. ncbi request reprint Primary immunodeficiency: looking backwards, looking forwards
    William T Shearer
    Departments of Pediatrics and Immunology, Baylor College of Medicine, and Texas Children s Hospital, 6621 Fannin Street, MC FC330 01, Houston, TX 77030, USA
    J Allergy Clin Immunol 113:607-9. 2004
  73. ncbi request reprint Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes
    Anna Sediva
    Institute of Immunology, University Hospital Motol, V Uvalu 84, 150 06, Prague 5, Czech Republic
    J Clin Immunol 27:640-6. 2007
    ..The severity of symptoms, however, did not correlate with the extent of the deletion...
  74. ncbi request reprint Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
    Kohsuke Imai
    Institut National de la Santé et de la Recherche Médicale Unité 429, Hopital Necker Enfants Malades, 75015 Paris, France
    Nat Immunol 4:1023-8. 2003
    ....
  75. ncbi request reprint Rituximab inhibits the in vivo primary and secondary antibody response to a neoantigen, bacteriophage phiX174
    Christopher M Bearden
    Department of Surgery, Indiana University, Indianapolis, IN, USA
    Am J Transplant 5:50-7. 2005
    ..RIT decreases antibody production and isotype switching to neoantigens and might be useful to prevent antibody response to therapeutic drugs and to newly transplanted organs...
  76. ncbi request reprint The hyper IgM syndrome--an evolving story
    Amos Etzioni
    Department of Pediatrics, Meyer Children s Hospital, B Rappaport Faculty of Medicine, Technion, Haifa, Israel 31096
    Pediatr Res 56:519-25. 2004
    ..Thus, the molecular definition of these rare primary immune deficiency disorders has shed light on the complex events leading to the production of high-affinity, antigen-specific antibodies of different isotypes...
  77. ncbi request reprint WAVE/Scars in platelets
    Atsushi Oda
    Laboratory of Environmental Biology, Department of Preventive Medicine, Hokkaido University School of Medicine, Kitaku, Sapporo, 060 8638, Japan
    Blood 105:3141-8. 2005
    ..These data suggest that the 3 WAVE isoforms exhibit common and distinct features and may potentially be involved in the regulation of actin cytoskeleton in platelets...
  78. ncbi request reprint Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity
    Yoshiyuki Minegishi
    Department of Immune Regulation, Graduate School, Tokyo Medical and Dental University, Yushima, Tokyo, Japan
    Immunity 25:745-55. 2006
    ..This study identifies human Tyk2 deficiency and demonstrates that Tyk2 plays obligatory roles in multiple cytokine signals involved in innate and acquired immunity of humans, which differs substantially from Tyk2 function in mice...

Research Grants2

  1. DEVELOPMENTAL AND GENETIC DEFECTS OF IMMUNITY
    Hans Ochs; Fiscal Year: 2007
    ..Results from these investigations will clarify the function of WASP, explain the phenotypes of WAS/XLT and will undoubtedly have implications for optimal therapy of affected patients. ..