Lista de obras -

A 58-year-old man with respiratory insufficiency after a 50-year history of hypersensitivity pneumonitis and pulmonary Aspergillus infections

artículo científico publicado en 2013

A Protective Role for Inflammasome Activation Following Injury—Shock 2012;37(1) ⬇️

artículo científico publicado el 1 de junio de 2012

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

artículo científico publicado en 2006

Alu repeat-induced deletions in chronic granulomatous disease: a cause not only for p67-phox, but also for p47-phox deficiency ⬇️

artículo científico publicado el 29 de diciembre de 2012

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

artículo científico publicado en 2010

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

scientific article published on 20 April 2020

Autophagy proteins stabilize pathogen-containing phagosomes for prolonged MHC II antigen processing.

artículo científico publicado en 2013

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

artículo científico publicado en 2010

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

artículo científico publicado en 2005

CARD15 genotype and phenotype analysis in 55 pediatric patients with Crohn disease from Saxony, Germany

artículo científico publicado en 2003

Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

artículo científico publicado en 2011

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

artículo científico publicado en 2003

Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD.

artículo científico publicado en 2007

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

artículo científico publicado en 2008

Chronic granulomatous disease: the European experience

artículo científico publicado en 2009

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

scientific article published in The Lancet

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

artículo científico publicado en 2014

Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: Treatment with rituximab ⬇️

artículo científico publicado el 1 de marzo de 2011

Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation

artículo científico publicado en 2002

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease

artículo científico

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

artículo científico publicado en 2010

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

artículo científico publicado en 2015

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Gene therapy for chronic granulomatous disease

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

artículo científico publicado en 2005

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

artículo científico publicado en 2010

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

artículo científico publicado en 2010

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

article by Joachim Roesler et al published December 2004 in The Journal of Pediatrics

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

artículo científico publicado en 2020

Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling

artículo científico publicado en 2014

Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany

artículo científico publicado en 2005

Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T-cell Deficiencies

artículo científico publicado en 2020

Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency ⬇️

artículo científico publicado el 1 de marzo de 2011

More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

artículo científico publicado en 2020

Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity ⬇️

artículo científico publicado el 25 de octubre de 2010

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

artículo científico publicado en 2013

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

artículo científico publicado en 2012

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

artículo científico publicado en 2015

Non-canonical Caspase-1 Signaling Drives RIP2-Dependent and TNF-α-Mediated Inflammation In Vivo

artículo científico publicado en 2020

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

Outcome of chronic granulomatous disease - conventional treatment versus stem cell transplantation

artículo científico publicado en 2020

P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)

artículo científico publicado en 2012

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome

artículo científico publicado en 2004

Polyclonal long-term MFGS-gp91phox marking in rhesus macaques after nonmyeloablative transplantation with transduced autologous peripheral blood progenitor cells

artículo científico publicado en 2006

Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger

scientific article published on 09 September 2019

Redundant ability of phagocytes to kill Aspergillus species

artículo científico publicado en 2011

S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections

scholarly article by Ellen Renner et al published 2009 in Clinical Immunology

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

artículo científico publicado en 2003

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

artículo científico publicado en 2004

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

artículo científico publicado en 2006

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

artículo científico publicado en 2019

Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease

artículo científico publicado en 2002

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

artículo científico publicado en 2003

Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood

artículo científico publicado en 2002

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma

artículo científico publicado en 2017

Lista de obras de

A 58-year-old man with respiratory insufficiency after a 50-year history of hypersensitivity pneumonitis and pulmonary Aspergillus infections

A Protective Role for Inflammasome Activation Following Injury—Shock 2012;37(1) ⬇️

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

Alu repeat-induced deletions in chronic granulomatous disease: a cause not only for p67-phox, but also for p47-phox deficiency ⬇️

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Autophagy proteins stabilize pathogen-containing phagosomes for prolonged MHC II antigen processing.

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD)

CARD15 genotype and phenotype analysis in 55 pediatric patients with Crohn disease from Saxony, Germany

Canakinumab (ACZ885, a fully human IgG1 anti-IL-1β mAb) induces sustained remission in pediatric patients with cryopyrin-associated periodic syndrome (CAPS)

Capofungin therapy for Aspergillus lung infection in a boy with chronic granulomatous disease

Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD.

Chronic granulomatous disease (CGD) mimicking neoplasms: a suspected mediastinal teratoma unmasking as thymic granulomas due to X-linked CGD, and 2 related cases

Chronic granulomatous disease: the European experience

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

Clinical picture and treatment of 2212 patients with common variable immunodeficiency

Complement C2 deficiency disarranging innate and adaptive humoral immune responses in a pediatric patient: Treatment with rituximab ⬇️

Correction of complete interferon-gamma receptor 1 deficiency by bone marrow transplantation

Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Gene therapy for chronic granulomatous disease

Haploinsufficiency, rather than the effect of an excessive production of soluble CD95 (CD95{Delta}TM), is the basis for ALPS Ia in a family with duplicated 3' splice site AG in CD95 intron 5 on one allele

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

Hematopoietic stem cell transplantation for complete IFN-γ receptor 1 deficiency: A multi-institutional survey

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells

Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling

Influence of CARD15 mutations on disease activity and response to therapy in 65 pediatric Crohn patients from Saxony, Germany

Matched Family Donor Lymphocyte Infusions as First Cellular Therapy for Patients with Severe Primary T-cell Deficiencies

Meningoencephalitis caused by varicella-zoster virus reactivation in a child with dominant partial interferon-gamma receptor-1 deficiency ⬇️

More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation

Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity ⬇️

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.

Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis

Non-canonical Caspase-1 Signaling Drives RIP2-Dependent and TNF-α-Mediated Inflammation In Vivo

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

Outcome of chronic granulomatous disease - conventional treatment versus stem cell transplantation

P67-phox (NCF2) lacking exons 11 and 12 is functionally active and leads to an extremely late diagnosis of chronic granulomatous disease (CGD)

Periodic fever, mild arthralgias, and reversible moderate and severe organ inflammation associated with the V198M mutation in the CIAS1 gene in three German patients--expanding phenotype of CIAS1 related autoinflammatory syndrome

Polyclonal long-term MFGS-gp91phox marking in rhesus macaques after nonmyeloablative transplantation with transduced autologous peripheral blood progenitor cells

Rapid and Sustained Long-Term Efficacy and Safety of Canakinumab in Patients With Cryopyrin-Associated Periodic Syndrome Ages Five Years and Younger

Redundant ability of phagocytes to kill Aspergillus species

S.7. IL-17 Signaling Defects in Patients with Candida Albicans and/or Staphylococcus Aureus Infections

Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

Successful elimination of an invasive Aspergillus nidulans lung infection by voriconazole after failure of a combination of caspofungin and liposomal amphotericin B in a boy with chronic granulomatous disease

Successful unrelated bone marrow transplantation in a child with chronic granulomatous disease complicated by pulmonary and cerebral granuloma formation

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

Third-generation, self-inactivating gp91(phox) lentivector corrects the oxidase defect in NOD/SCID mouse-repopulating peripheral blood-mobilized CD34+ cells from patients with X-linked chronic granulomatous disease

Two German CINCA (NOMID) patients with different clinical severity and response to anti-inflammatory treatment

Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood

Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma