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List of works by Stephan Ehl

"Bystander" recruitment of systemic memory T cells delays the immune response to respiratory virus infection

scientific article published in July 2003

A RAB27A 5' untranslated region structural variant associated with late-onset hemophagocytic lymphohistiocytosis and normal pigmentation.

scientific article published on 6 March 2018

A cautionary note on experimental artefacts induced by fetal calf serum in a viral model of pulmonary eosinophilia

scientific article published in October 2002

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

scientific article published on 01 February 2021

A functional and kinetic comparison of antiviral effector and memory cytotoxic T lymphocyte populations in vivo and in vitro ⬇️

scientific article published on December 1, 1997

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

scientific article published in June 2014

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

scientific article published on 04 February 2011

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes

scientific article published on 31 January 2012

A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.

scientific article

A severe form of human combined immunodeficiency due to mutations in DNA ligase IV.

scientific article published on April 2006

A variant of SCID with specific immune responses and predominance of gamma delta T cells

scientific article

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

scientific article published on 3 June 2014

Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency

scientific article published on 21 December 2011

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

scientific article

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

scientific article published on 20 January 2012

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

scientific article

Both nonstructural proteins NS1 and NS2 of pneumonia virus of mice are inhibitors of the interferon type I and type III responses in vivo

scientific article

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

scientific article

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels

scientific article published on 13 April 2018

Cell Versus Cytokine - Directed Therapies for Hemophagocytic Lymphohistiocytosis (HLH) in Inborn Errors of Immunity

scientific article published on 08 May 2020

Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

scientific article

Clinical and Molecular Heterogeneity of RTEL1 Deficiency

scientific article

Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency

scientific article published on 26 August 2008

Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency.

scientific article published on 30 May 2011

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

scientific article

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation

scientific article

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy

scientific article published on 18 June 2003

Common variable immunodeficiency in children

scientific article published on December 2007

Computational analysis of CFSE proliferation assay

scientific article published on 9 November 2006

DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients

scientific article

Deficiency of innate and acquired immunity caused by an IKBKB mutation.

scientific article published on December 2013

Delayed-onset adenosine deaminase deficiency: Strategies for an early diagnosis

scientific article published on 10 May 2012

Dendritic cells efficiently induce protective antiviral immunity

scientific article

Diagnostic evaluation of patients with suspected haemophagocytic lymphohistiocytosis

scientific article published on 04 December 2012

Differences in Granule Morphology yet Equally Impaired Exocytosis among Cytotoxic T Cells and NK Cells from Chediak-Higashi Syndrome Patients

scientific article published on 18 April 2017

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. ⬇️

scientific article published on 16 March 2018

Disease-causing mutations in the XIAP BIR2 domain impair NOD2-dependent immune signalling

scientific article published on July 2013

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

scientific article published on 23 November 2019

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).

scientific article published on 26 March 2012

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

scientific article published on 23 February 2016

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

scientific article

Dysregulated PI3K Signaling in B Cells of CVID Patients

scholarly article

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency

scientific article

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

scientific article published on 21 October 2020

Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.

scientific article

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

scientific article published on 07 October 2020

Erratum zu: Impfen bei Immundefizienz : Anwendungshinweise zu den von der Ständigen Impfkommission empfohlenen Impfungen. (II) Impfen bei 1. Primären Immundefekterkrankungen und 2. HIV-Infektion

scientific article published on 01 March 2019

Erratum zu: Impfen bei Immundefizienz : Anwendungshinweise zu den von der Ständigen Impfkommission empfohlenen Impfungen. (II) Impfen bei 1. Primären Immundefekterkrankungen und 2. HIV-Infektion

scientific article published on 01 October 2018

Erythropoiesis defect observed in STAT3 GOF patients with severe anemia

scientific article published on 17 December 2019

Etoposide for HLH: the limits of efficacy

scientific article published in December 2017

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

scientific article published on 17 April 2019

Evans syndrome and idiopathic thrombocytopenic purpura in families: Consider autoimmune lymphoproliferative disease

scientific article published in June 2008

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

scientific article published on 27 October 2016

Exhaustion of cytotoxic T cells during adoptive immunotherapy of virus carrier mice can be prevented by B cells or CD4+ T cells

scientific article published in February 2002

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

scientific article

Functional flow cytometry of monocytes for routine diagnosis of innate primary immunodeficiencies

scientific article published on 14 September 2019

Functional impairment of cytotoxic T cells in the lung airways following respiratory virus infections

scientific article published in June 2006

General and specific immunosuppression caused by antiviral T-cell responses

scientific article

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

scientific article published on 09 June 2020

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

scientific article published on 30 January 2020

Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice

scientific article published on 16 December 2013

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

scientific article published in October 2015

Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome.

scientific article published on 12 November 2016

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

scientific article published on 17 June 2017

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

scientific article published on 20 February 2020

Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area.

scientific article published on 3 May 2014

Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease

scientific journal article

High Levels of IL-18 and IFN-γ in Chronically Inflamed Tissue in Chronic Granulomatous Disease

scientific article published on 18 October 2019

Human metapneumovirus induces more severe disease and stronger innate immune response in BALB/c mice as compared with respiratory syncytial virus

scientific article published on 29 January 2007

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

scientific article

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

scientific article published on 28 August 2018

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

scientific article published in November 2005

IgG4-related disease in autoimmune lymphoproliferative syndrome

scientific article published on 3 May 2017

Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells

scientific article published on 18 June 2016

Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies

scientific article published on 30 October 2019

In situ evolution of virus-specific cytotoxic T cell responses in the lung

scientific article published on 14 August 2013

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations

scientific article published on 15 February 2019

Influence of a single viral epitope on T cell response and disease after infection of mice with respiratory syncytial virus

scientific article published in December 2007

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

scientific article

Is an infectious trigger always required for primary hemophagocytic lymphohistiocytosis? Lessons from in utero and neonatal disease

scientific article published on 01 August 2018

Lambda interferon renders epithelial cells of the respiratory and gastrointestinal tracts resistant to viral infections

scientific article

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

scientific article

Lesson from hypomorphic recombination-activating gene (RAG) mutations: Why asymptomatic siblings should also be tested

scientific article published on 10 December 2013

Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II

scientific article published on 21 March 2006

Long-term follow up of IPEX syndrome patients after different therapeutic strategies: an international multicenter retrospective study.

scientific article published on 11 December 2017

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

scientific article published on 22 August 2020

Major histocompatibility complex-dependent cytotoxic T lymphocyte repertoire and functional avidity contribute to strain-specific disease susceptibility after murine respiratory syncytial virus infection

scientific article

Malignancy-associated haemophagocytic lymphohistiocytosis in children and adolescents

scientific article published on 4 May 2015

Massive monoclonal expansion of CD4 T-cells specific for a Mycobacterium tuberculosis ESAT-6 peptide

scientific article published on 20 January 2012

Missense mutation in immunodeficient patients shows the multifunctional roles of coiled-coil domain 3 (CC3) in STIM1 activation

scientific article published on 27 April 2015

Modelling the dynamics of LCMV infection in mice: II. Compartmental structure and immunopathology

scientific article published in April 2003

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome

scientific article published on 7 January 2016

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome

scientific article

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

scientific article published on 01 December 2020

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

scientific article published on 07 July 2020

Non-CF Bronchiectasis as a Possible Indicator of a Primary Immunodeficiency: Diagnosis, Clinical Course, and Quality of Life in a Pediatric Cohort

scientific article published on 24 July 2019

Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia

scientific article published on 10 December 2014

Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype

scientific article published on 5 December 2012

Numerical modelling of label-structured cell population growth using CFSE distribution data

scientific article

ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia

scientific article

ORAI1 mutations abolishing store-operated Ca2+ entry cause anhidrotic ectodermal dysplasia with immunodeficiency

scientific article published on 15 November 2017

ORAI1-mediated calcium influx is required for human cytotoxic lymphocyte degranulation and target cell lysis

scientific article

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

scientific article

Oncogenic JAK2V617F causes PD-L1 expression, mediating immune escape in myeloproliferative neoplasms.

scientific article published in February 2018

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

scientific article

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

scientific article published on 28 August 2014

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

scientific article published on 04 May 2018

Platelet secretion defect in a patient with stromal interaction molecule 1 deficiency.

scientific article published in November 2013

Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)

scientific article published on 01 December 2010

Preserved effector functions of human ORAI1- and STIM1-deficient neutrophils

scientific article published on 6 December 2015

Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency. ⬇️

scientific article published on 22 February 2018

Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.

scientific article

Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two: Genoa, Italy. 28 September – 01 October 2016.

scientific article published on 30 May 2017

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations

scientific article published on 10 June 2019

Pulmonary T cells induced by respiratory syncytial virus are functional and can make an important contribution to long-lived protective immunity

scientific article published in September 2002

Quorum Regulation via Nested Antagonistic Feedback Circuits Mediated by the Receptors CD28 and CTLA-4 Confers Robustness to T Cell Population Dynamics

scientific article published on 11 February 2020

Rapid identification and characterization of infected cells in blood during chronic active Epstein-Barr virus infection

scientific article published on 01 November 2020

Recent advances in the diagnosis and treatment of hemophagocytic lymphohistiocytosis.

scientific article

Recombinant Sendai virus induces T cell immunity against respiratory syncytial virus that is protective in the absence of antibodies

scientific article

Recommendations for the Use of Etoposide-Based Therapy and Bone Marrow Transplantation for the Treatment of HLH: Consensus Statements by the HLH Steering Committee of the Histiocyte Society

scientific article published on 04 July 2018

Retroviral UNC13D Gene Transfer Restores Cytotoxic Activity of T Cells Derived from Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients In Vitro

scientific article published on 21 May 2019

Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption

scientific article

Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning

scientific article published on 03 July 2020

Role of T cells in virus control and disease after infection with pneumonia virus of mice

scientific article

SYK expression endows human ZAP70-deficient CD8 T cells with residual TCR signaling

scientific article published on 14 July 2015

Safety and efficacy of combination of etanercept and methotrexate compared to treatment with etanercept only in patients with juvenile idiopathic arthritis (JIA): preliminary data from the German JIA Registry

scientific article

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

scientific article

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

scientific article published on 28 October 2020

Semi-automatic determination of cell surface areas used in systems biology

scientific article

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

scientific article published on 12 July 2013

Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders

scientific article published on 19 November 2013

Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome

scientific article

Syntaxin binding mechanism and disease-causing mutations in Munc18-2

scientific article

T cell expansion is the limiting factor of virus control in mice with attenuated TCR signaling: implications for human immunodeficiency

scientific article published on 11 February 2015

T cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents Haemophagocytic Lymphohistiocytosis manifestations.

scientific article published on 17 January 2018

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency

scientific article published on 01 May 2018

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

scientific article published on 14 April 2020

Targeted busulfan-based reduced-intensity conditioning and HLA-matched HSCT cure hemophagocytic lymphohistiocytosis

scientific article published on 01 May 2020

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

scientific article published on 15 February 2019

The European Society for Immunodeficiencies (ESID) registry 2014

The Impact of Variation in the Number of CD8+T-Cell Precursors on the Outcome of Virus Infection ⬇️

scientific article published on October 10, 1998

The NEW ESID online database network

scientific article published on 01 December 2019

The autoimmune targets in IPEX are dominated by gut epithelial proteins

scientific article published on 23 April 2019

The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data

scientific article published on 12 November 2018

The hyper-IgE syndrome is not caused by a microdeletion syndrome

scientific article published on 14 November 2007

The impact of splenectomy on antiviral T cell memory in mice

scientific article published in November 2004

The minimum required level of donor chimerism in hereditary hemophagocytic lymphohistiocytosis

scientific article published on 20 April 2016

The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events

article

The provisional Paediatric Rheumatology International Trials Organisation/American College of Rheumatology/European League Against Rheumatism Disease activity core set for the evaluation of response to therapy in juvenile dermatomyositis: a prospect

scientific article published on 01 January 2008

The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2

scientific article published on 12 February 2013

The role of Toll-like receptor 4 versus interleukin-12 in immunity to respiratory syncytial virus

scientific article published in April 2004

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis

scientific article published on 28 May 2015

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease

scientific article published in April 2010

Toll-Like Receptor Stimulation Induces Higher TNF-α Secretion in Peripheral Blood Mononuclear Cells from Patients with Hyper IgE Syndrome

scientific article published on 11 February 2008

Translating the genomic revolution - targeted genome editing in primates

scientific article published in June 2014

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

scientific article published on 23 January 2016

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

scientific article published on 10 May 2017

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

scientific article published on 17 May 2020

Tuberculosis-Associated HLH in an 8-Month-Old Infant: A Case Report and Review

scientific article published on 30 October 2020

Two siblings with lethal pneumococcal meningitis in a family with a mutation in Interleukin-1 receptor-associated kinase 4

scientific article published on 01 November 2004

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

scientific article published on 12 September 2016

Viral and Bacterial Infections Interfere with Peripheral Tolerance Induction and Activate CD8+ T Cells to Cause Immunopathology ⬇️

scientific article published on March 2, 1998

Virus clearance and immunopathology by CD8(+) T cells during infection with respiratory syncytial virus are mediated by IFN-gamma

scientific article published in August 2002

Wiskott-Aldrich syndrome presenting with a clinical picture mimicking juvenile myelomonocytic leukaemia

scientific article

XIAP deficiency is a mendelian cause of late-onset IBD.

scientific article published on 10 December 2013

β2-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system.

scientific article published on 19 February 2015

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