Stephan Ehl
Overview
Explore the profile of Stephan Ehl including associated specialties, affiliations and a list of published articles.
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216
Citations
7387
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Recent Articles
1.
Hadjadj J, Wolfers A, Borisov O, Hazard D, Leahy R, Jeanpierre M, et al.
Lancet Rheumatol
. 2025 Mar;
PMID: 40024253
Background: Suppressor of cytokine signalling 1 (SOCS1) insufficiency is an inborn error of immunity affecting the negative regulation of cytokine and growth factor signalling. We aimed to enhance the understanding...
2.
Toskov V, Werner D, Furlan I, Erlacher M, Friedrich C, Schulz A, et al.
Pediatr Blood Cancer
. 2025 Feb;
:e31625.
PMID: 39994840
No abstract available.
3.
Trojovsky K, Seidl M, Babor F, Ehl S, Lee-Kirsch M, Friedt M, et al.
Front Pediatr
. 2025 Jan;
12():1516017.
PMID: 39840313
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct...
4.
Whalen J, Chandra A, Kracker S, Ehl S, Seidel M, Gulas I, et al.
Clin Exp Immunol
. 2024 Dec;
219(1).
PMID: 39673396
Leniolisib, an oral, targeted phosphoinositide 3-kinase delta (PI3Kδ) inhibitor, was well-tolerated and efficacious versus placebo in treating individuals with activated PI3Kδ syndrome (APDS), an ultra-rare inborn error of immunity (IEI),...
5.
Mann J, Runge S, Schell C, Grawe K, Thoulass G, Lao J, et al.
Eur J Immunol
. 2024 Nov;
55(1):e202451061.
PMID: 39548906
Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by inborn errors of cytotoxicity. Patients with biallelic PRF1 null mutations (encoding perforin) usually develop excessive immune cell activation, hypercytokinemia,...
6.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas M, Yang J, et al.
Sci Adv
. 2024 Sep;
10(37):eado5545.
PMID: 39270020
Inositol 1,4,5-trisphosphate (IP3) receptor type 1 (), (), and () encode the IP3 receptor (IP3R), a key player in intracellular calcium release. In four unrelated patients, we report that an...
7.
Toskov V, Bali P, Hershfield M, Ehl S, Speckmann C
J Clin Immunol
. 2024 Sep;
45(1):8.
PMID: 39264481
No abstract available.
8.
Graafen L, Heinze A, Albinger N, Salzmann-Manrique E, Ganss F, Hunecke S, et al.
Front Immunol
. 2024 Aug;
15:1377955.
PMID: 39165363
Ataxia telangiectasia (AT) is a rare autosomal-recessive disorder characterized by profound neurodegeneration, combined immunodeficiency, and an increased risk for malignant diseases. Treatment options for AT are limited, and the long-term...
9.
Chiang S, Covill L, Tesi B, Campbell T, Schlums H, Nejati-Zendegani J, et al.
Blood
. 2024 Jul;
144(8):873-887.
PMID: 38958468
Primary hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder associated with autosomal recessive variants in genes required for perforin-mediated lymphocyte cytotoxicity. A rapid diagnosis is crucial for successful treatment. Although defective...
10.
Toskov V, Kaiser-Labusch P, Lee-Kirsch M, Ehl S, Wegehaupt O
J Clin Immunol
. 2024 May;
44(6):129.
PMID: 38773012
Mutations in genes of the DNA polymerase complex have been linked to impaired immunological function next to distinct syndromic features. Biallelic mutations in PRIM1 are associated with a primordial dwarfism...