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Suggested authors matching "AUTH:Ehl S" with an ORCID

Stephan Ehl
University of Freiburg
27
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10,028
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Stefan Ehl
No affiliation detected
3
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5
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The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.
Mann J, Runge S, Schell C, Gräwe K, Thoulass G, Lao J, Ammann S, Grün S, König C, Berger SA, Hild B, Aichele P, Rosshart SP, Ehl S
Eur J Immunol, e202451061, 16 Nov 2024
Cited by: 0 articles | PMID: 39548906
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Successful Long-Term Enzyme Replacement Therapy in a Patient with Delayed-Onset ADA Deficiency.
Toskov V, Bali P, Hershfield MS, Ehl S, Speckmann C
J Clin Immunol, 45(1):8, 12 Sep 2024
Cited by: 0 articles | PMID: 39264481 | PMCID: PMC11393103
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A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, [...] Bahram S
Sci Adv, 10(37):eado5545, 13 Sep 2024
Cited by: 0 articles | PMID: 39270020 | PMCID: PMC11397499
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Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia.
Graafen L, Heinze A, Albinger N, Salzmann-Manrique E, Ganß F, Hünecke S, Cappel C, Wölke S, Donath H, Trischler J, Theilen TM, Heller C, Königs C, Ehl S, Bader P, Klingebiel T, Klusmann JH, Zielen S, Schubert R, Ullrich E
Front Immunol, 15:1377955, 06 Aug 2024
Cited by: 0 articles | PMID: 39165363 | PMCID: PMC11333214
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Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, Campbell TM, Schlums H, Nejati-Zendegani J, Mördrup K, Wood S, Theorell J, Sekine T, Al-Herz W, Akar HH, Belen FB, Chan MY, Devecioglu O, Aksu T, Ifversen M, Malinowska I, Sabel M, [...] Bryceson YT
Blood, 144(8):873-887, 01 Aug 2024
Cited by: 0 articles | PMID: 38958468 | PMCID: PMC11375501
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Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.
Toskov V, Kaiser-Labusch P, Lee-Kirsch MA, PRIM1 study group, Ehl S, Wegehaupt O
J Clin Immunol, 44(6):129, 22 May 2024
Cited by: 0 articles | PMID: 38773012 | PMCID: PMC11108906
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Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, [...] Ammann S
J Exp Med, 221(7):e2022112205142024c, 21 May 2024
Cited by: 0 articles | PMID: 38771261 | PMCID: PMC11110822
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Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.
Vakkilainen S, Ahonen K, USIDNET study group, ESID study group, Mäkitie O, ESID
J Clin Immunol, 44(5):115, 27 Apr 2024
Cited by: 0 articles | PMID: 38676846
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Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, [...] Ammann S
J Exp Med, 221(7):e20221122, 09 May 2024
Cited by: 0 articles | PMID: 38722309 | PMCID: PMC11082451
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Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.
Böhm S, Wustrau K, Pachlopnik Schmid J, Prader S, Ahlmann M, Yacobovich J, Beier R, Speckmann C, Behnisch W, Ifversen M, Jordan M, Marsh R, Naumann-Bartsch N, Mauz-Körholz C, Hönig M, Schulz A, Malinowska I, Hines M, Nichols KE, [...] Ehl S
Blood, 143(10):872-881, 01 Mar 2024
Cited by: 3 articles | PMID: 37992218
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Activation of gp130 signaling in T cells drives T<sub>H</sub>17-mediated multi-organ autoimmunity.
Baumgartner F, Bamopoulos SA, Faletti L, Hsiao HJ, Holz M, Gonzalez-Menendez I, Solé-Boldo L, Horne A, Gosavi S, Özerdem C, Singh N, Liebig S, Ramamoorthy S, Lehmann M, Demel U, Kühl AA, Wartewig T, Ruland J, Wunderlich FT, [...] Keller U
Sci Signal, 17(824):eadc9662, 20 Feb 2024
Cited by: 0 articles | PMID: 38377177
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Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Hägele P, Staus P, Scheible R, Uhlmann A, Heeg M, Klemann C, Maccari ME, Ritterbusch H, Armstrong M, Cutcutache I, Elliott KS, von Bernuth H, Leahy TR, Leyh J, Holzinger D, Lehmberg K, Svec P, Masjosthusmann K, Hambleton S, [...] ALPID study group
Lancet Haematol, 11(2):e114-e126, 01 Feb 2024
Cited by: 0 articles | PMID: 38302222
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KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation.
Ran L, Ye T, Erbs E, Ehl S, Spassky N, Sumara I, Zhang Z, Ricci R
Sci Immunol, 8(90):eadf4699, 22 Dec 2023
Cited by: 5 articles | PMID: 38134241
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Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.
Staniek J, Kalina T, Kalina T, Andrieux G, Boerries M, Janowska I, Fuentes M, Díez P, Bakardjieva M, Stancikova J, Raabe J, Neumann J, Schwenk S, Arpesella L, Stuchly J, Benes V, García Valiente R, Fernández García J, Carsetti R, [...] Rizzi M
Sci Immunol, 9(91):eadj5948, 12 Jan 2024
Cited by: 0 articles | PMID: 38215192
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BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.
Salou S, Voelkl S, Keller B, Ehl S, Naumann-Bartsch N
J Clin Immunol, 44(1):37, 30 Dec 2023
Cited by: 0 articles | PMID: 38159157 | PMCID: PMC10757694
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Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
Rensing-Ehl A, Lorenz MR, Führer M, Willenbacher W, Willenbacher E, Sopper S, Abinun M, Maccari ME, König C, Haegele P, Fuchs S, Castro C, Kury P, Pelle O, Klemann C, Heeg M, Thalhammer J, Wegehaupt O, Fischer M, [...] ALPS Study Group
J Allergy Clin Immunol, 153(1):297-308.e12, 17 Nov 2023
Cited by: 1 article | PMID: 37979702
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JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, [...] Speckmann C
J Allergy Clin Immunol, 153(1):275-286.e18, 05 Nov 2023
Cited by: 6 articles | PMID: 37935260
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Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.
Magerus A, Rensing-Ehl A, Rao VK, Teachey DT, Rieux-Laucat F, Ehl S
J Allergy Clin Immunol, 153(1):67-76, 17 Nov 2023
Cited by: 1 article | PMID: 37977527
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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, [...] Speckmann C
Clin Immunol, 256:109777, 22 Sep 2023
Cited by: 0 articles | PMID: 37741518
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Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.
Toskov V, Ehl S
Mol Cell Pediatr, 10(1):11, 13 Sep 2023
Cited by: 2 articles | PMID: 37702894 | PMCID: PMC10499775
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Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.
Pellé O, Moreno S, Lorenz MR, Riller Q, Fuehrer M, Stolzenberg MC, Maccari ME, Lenoir C, Cheminant M, Hinze T, Hebart HF, König C, Schvartz A, Schmitt Y, Vinit A, Henry E, Touzart A, Villarese P, Isnard P, [...] Magérus A
J Allergy Clin Immunol, 153(1):203-215, 02 Oct 2023
Cited by: 3 articles | PMID: 37793571
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Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis.
Dettmer-Monaco V, Weißert K, Ammann S, Monaco G, Lei L, Gräßel L, Rhiel M, Rositzka J, Kaufmann MM, Geiger K, Andrieux G, Lao J, Thoulass G, Schell C, Boerries M, Illert AL, Cornu TI, Ehl S, Aichele P, Cathomen T
J Allergy Clin Immunol, 153(1):243-255.e14, 16 Aug 2023
Cited by: 3 articles | PMID: 37595758
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Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
Wolf C, Fischer H, Kühl JS, Koss S, Jamra RA, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, Huber R, Hornung V, Lee-Kirsch MA
J Allergy Clin Immunol, 152(5):1336-1344.e5, 05 Aug 2023
Cited by: 2 articles | PMID: 37544411 | PMCID: PMC7615848
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Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, [...] European Society for Immunodeficiencies Registry Working Party
J Allergy Clin Immunol, 152(4):984-996.e10, 28 Jun 2023
Cited by: 9 articles | PMID: 37390899
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Immunodeficiency with susceptibility to lymphoma with complex genotype affecting energy metabolism (FBP1, ACAD9) and vesicle trafficking (RAB27A).
Brauer N, Maruta Y, Lisci M, Strege K, Oschlies I, Nakamura H, Böhm S, Lehmberg K, Brandhoff L, Ehl S, Parvaneh N, Klapper W, Fukuda M, Griffiths GM, Hennies HC, Niehues T, Ammann S
Front Immunol, 14:1151166, 14 Jun 2023
Cited by: 3 articles | PMID: 37388727 | PMCID: PMC10303925
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1-25 of 273 results

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Search life-sciences literature (45,103,589 articles, preprints and more)

Suggested authors matching "AUTH:Ehl S" with an ORCID

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The Microbiome Modifies Manifestations of Hemophagocytic Lymphohistiocytosis in Perforin-Deficient Mice.

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

A pleiotropic recurrent dominant <i>ITPR3</i> variant causes a complex multisystemic disease.

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

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

Variable Syndromic Immunodeficiency in Patients with Biallelic PRIM1 Mutations.

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

Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia.

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

Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.

Activation of gp130 signaling in T cells drives T<sub>H</sub>17-mediated multi-organ autoimmunity.

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.

KCNN4 links PIEZO-dependent mechanotransduction to NLRP3 inflammasome activation.

Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells.

BCL10 Deficiency Presenting as Severe Combined Immunodeficiency Escaping Newborn Screening.

Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.

JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.

Autoimmune lymphoproliferative immunodeficiencies (ALPIDs): A proposed approach to redefining ALPS and other lymphoproliferative immune disorders.

C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.

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

Combined germline and somatic human FADD mutations cause autoimmune lymphoproliferative syndrome.

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

Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.

Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

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

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