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Person

Stephan Ehl

Arzt

Name	Stephan Ehl
Place	Deutschland
Academic degree	Prof. Dr. med.
Profession	Arzt (characteristic profession)
Variant	Stephan R. Ehl
Related	Centrum für Chronische Immundefizienz
Source	FreiDok plus Admin
Record type	Person
GND-Identifier	1156742463
Record ID	1156742463
Involved in show all Successful long-term enzyme replacement therapy in a patient with delayed-onset ADA deficiency Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening Efficacy of T cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis Gene editing of hematopoietic stem cells restores T cell response in familial hemophagocytic lymphohistiocytosis Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect Variable syndromic immunodeficiency in patients with Biallelic PRIM1 mutations BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API) Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A) JAKi salvage therapy followed by curative cord blood transplantation in a XIAP-deficient infant with relapsing HLH Json2Xlsx: extraction and visualization of nested data in a sparse spreadsheet MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity Prospective newborn screening for SCID in Germany: A first analysis by the pediatric immunology working group (API) The GAIN Registry - a new prospective study for patients with multi-organ autoimmunity and autoinflammation Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH) Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients Immune‐mediated pathology as a consequence of impaired immune reactions: the IMPATH paradox Immunopathology caused by impaired CD8 + T‐cell responses Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH) Der Trankriptionsfaktor T-bet wird durch IL-15 und Agonistenselektion induziert und kontrolliert die Entwicklung von CD8αα+ intraepithelialen Lymphozyten Der Transkriptionsfaktor T-bet wird durch IL-15 und Agonistenselektion induziert und kontrolliert die Entwicklung von CD8αα+ intraepithelialen Lymphozyten = Der Transkriptionsfaktor T-bet wird durch IL-15 und Agonistenselektion induziert und kontrolliert die Entwicklung von CD8[alpha][alpha]+ intraepithelialen Lymphozyten Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients Dysregulated PI3K signaling in B cells of CVID patients Hermansky-Pudlak Syndrome: identification of novel variants in the genes HPS3, HPS5, and DTNBP1 (HPS-7) High-dimensional profiling reveals Tc17 cell enrichment in active Crohn’s disease and identifies a potentially targetable signature Immune‐mediated pathology as a consequence of impaired immune reactions: the IMPATH paradox Immunomodulatory effects of different Cannabis extracts on human primary lymphocytes Immunopathology caused by impaired CD8+ T‐cell responses Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1 Case report: Hemophagocytic lymphohistiocytosis and non-tuberculous mycobacteriosis caused by a novel GATA2 variant Curative treatment of POMP-related autoinflammation and immune dysregulation (PRAID) by hematopoietic stem cell transplantation Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: Experience from a monocentric study Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype Hospital acquired infections and their investigation – dealing with the impact of time in hospital epidemiology Ledipasvir/Sofosbuvir eradicates hepatitis C in an immunodeficient STAT3-GOF patient Simple measurement of IgA predicts immunity and mortality in Ataxia-Telangiectasia Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 cases of a nationwide German registry Trigger‐dependent differences determine therapeutic outcome in murine primary hemophagocytic lymphohistiocytosis Altered t-lymphocyte biology following high-dose melphalan and autologous stem cell transplantation with implications for adoptive t-cell therapy Altered T-lymphocyte biology following high-dose melphalan and autologous stem cell transplantation with implications for adoptive T-cell therapy Cell versus cytokine – directed therapies for hemophagocytic lymphohistiocytosis (HLH) in inborn errors of immunity Early-onset autoimmunity associated with SOCS1 haploinsufficiency Enabling external inquiries to an existing patient registry by using the open source registry system for rare diseases: demonstration of the system using the European Society for Immunodeficiencies registry Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation : : letter to the editor Griscelli syndrome type 2 sine albinism: unraveling differential RAB27A effector engagement

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Katalog der Deutschen Nationalbibliothek

Stephan Ehl

Successful long-term enzyme replacement therapy in a patient with delayed-onset ADA deficiency

Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations

A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease

BCL10 deficiency presenting as severe combined immunodeficiency escaping newborn screening

Efficacy of T cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis

Gene editing of hematopoietic stem cells restores T cell response in familial hemophagocytic lymphohistiocytosis

Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect

Variable syndromic immunodeficiency in patients with Biallelic PRIM1 mutations

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening

Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation

The GAIN Registry — a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation

Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API)

Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation

Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency

Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A)

JAKi salvage therapy followed by curative cord blood transplantation in a XIAP-deficient infant with relapsing HLH

Json2Xlsx: extraction and visualization of nested data in a sparse spreadsheet

MAP kinase activating death domain deficiency is a novel cause of impaired lymphocyte cytotoxicity

Prospective newborn screening for SCID in Germany: A first analysis by the pediatric immunology working group (API)

The GAIN Registry - a new prospective study for patients with multi-organ autoimmunity and autoinflammation

Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH)

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients

Immune‐mediated pathology as a consequence of impaired immune reactions: the IMPATH paradox

Immunopathology caused by impaired CD8 + T‐cell responses

Adoptive T cell therapy cures mice from active hemophagocytic lymphohistiocytosis (HLH)

Der Trankriptionsfaktor T-bet wird durch IL-15 und Agonistenselektion induziert und kontrolliert die Entwicklung von CD8αα+ intraepithelialen Lymphozyten

Disease progression of WHIM syndrome in an international cohort of 66 pediatric and adult patients

Dysregulated PI3K signaling in B cells of CVID patients

Hermansky-Pudlak Syndrome: identification of novel variants in the genes HPS3, HPS5, and DTNBP1 (HPS-7)

High-dimensional profiling reveals Tc17 cell enrichment in active Crohn’s disease and identifies a potentially targetable signature

Immune‐mediated pathology as a consequence of impaired immune reactions: the IMPATH paradox

Immunomodulatory effects of different Cannabis extracts on human primary lymphocytes

Immunopathology caused by impaired CD8+ T‐cell responses

Impaired IL-23–dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

Curative Treatment of POMP-Related Autoinflammation and Immune Dysregulation (PRAID) by Hematopoietic Stem Cell Transplantation

Ledipasvir/Sofosbuvir Eradicates Hepatitis C in an Immunodeficient STAT3-GOF Patient

A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS

Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1

Case report: Hemophagocytic lymphohistiocytosis and non-tuberculous mycobacteriosis caused by a novel GATA2 variant

Curative treatment of POMP-related autoinflammation and immune dysregulation (PRAID) by hematopoietic stem cell transplantation

Early‐onset, fatal interstitial lung disease in STAT3 gain‐of‐function patients

Establishing the molecular diagnoses in a cohort of 291 patients with predominantly antibody deficiency by targeted next-generation sequencing: Experience from a monocentric study

Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype

Hospital acquired infections and their investigation – dealing with the impact of time in hospital epidemiology

Ledipasvir/Sofosbuvir eradicates hepatitis C in an immunodeficient STAT3-GOF patient

Simple measurement of IgA predicts immunity and mortality in Ataxia-Telangiectasia

Hemophagocytic lymphohistiocytosis in adults: collaborative analysis of 137 cases of a nationwide German registry

Trigger‐dependent differences determine therapeutic outcome in murine primary hemophagocytic lymphohistiocytosis

Altered t-lymphocyte biology following high-dose melphalan and autologous stem cell transplantation with implications for adoptive t-cell therapy

Altered T-lymphocyte biology following high-dose melphalan and autologous stem cell transplantation with implications for adoptive T-cell therapy

Cell versus cytokine – directed therapies for hemophagocytic lymphohistiocytosis (HLH) in inborn errors of immunity

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

Enabling external inquiries to an existing patient registry by using the open source registry system for rare diseases: demonstration of the system using the European Society for Immunodeficiencies registry

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation : : letter to the editor

Griscelli syndrome type 2 sine albinism: unraveling differential RAB27A effector engagement