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Works (19)

Bridging the Gap: Registry and Population-Based Perspectives on SOCS1 Insufficiency

The Lancet : Rheumatology
2025 | Journal article | Author
SOURCE-WORK-ID:

3475d091-310e-4ef5-9973-b520488017ae
Contributors: Julia Körholz; Hadjadi Jéròme; Wolfers Anna Franziska; Oleg V. Borisov; Derek Hazard; Timothy Leahy; Jeanpierre Ronan; Alexandre Marie d Belot; Shahrzad Bakhtiar; Fabian Hauck et al.
Source: check_circle
FIS TU Dresden

A randomised, placebo-controlled, phase III trial of leniolisib in activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS)

Clinical Immunology
2025-01 | Journal article | Author
DOI: 10.1016/j.clim.2024.110400
SOURCE-WORK-ID:

e6d17ba2-0c0c-48d4-b792-c5f0fd661bc6

PMID: 39561927
EID:

2-s2.0-85210272587
Contributors: V Koneti Rao; Anna Šedivá; Virgil A S H Dalm; Alessandro Plebani; Catharina Schütz; Anna Shcherbina; Antonino Trizzino; Yulia Zharankova; Alanvin Orpia; Elaine Kulm et al.
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FIS TU Dresden

IKAROS-how many feathers have you lost: mild and severe phenotypes in IKZF1 deficiency.

Frontiers in pediatrics
2024 | Journal article | Author
DOI: 10.3389/fped.2024.1345730
SOURCE-WORK-ID:

7f837e50-c6fe-44c8-ba65-ecf67c97be54

PMID: 38813543
EID:

2-s2.0-85194721525
Contributors: Timmy Strauss; Julia Körholz; Hye Sun Kuehn; Agustin A Gil Silva; Franziska Taube; Karolin Trautmann-Grill; Anna Stittrich; Leonora Pietzsch; Ralf Wiedemuth; Volker Wahn et al.
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FIS TU Dresden

Leniolisib treatment for people with activated PI3K delta syndrome (APDS)

Future Rare Diseases
2024-09-16 | Journal article | Author
DOI: 10.1080/23995270.2024.2379239
SOURCE-WORK-ID:

368d4b66-6600-4484-bd1e-214a8ce6c337

EID:

2-s2.0-85201950871
Contributors: Elaine Kulm; Sharon Webster; Anna Šedivá; Alessandro Plebani; Catharina Schütz; Niall Conlon; Virgil A.S.H. Dalm; Julia Körholz; Vassilios Lougaris; Jo Luscombe et al.
Source: check_circle
FIS TU Dresden

Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

Nature genetics
2024-08 | Journal article
DOI: 10.1038/s41588-024-01836-1
SOURCE-WORK-ID:

ba4b83f0-72d7-4525-8297-08f4d3213365

PMID: 39039281
EID:

2-s2.0-85199186684
Contributors: Axel Schmidt; Magdalena Danyel; Kathrin Grundmann; Theresa Brunet; Hannah Klinkhammer; Tzung-Chien Hsieh; Hartmut Engels; Sophia Peters; Alexej Knaus; Shahida Moosa et al.
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FIS TU Dresden

One gene to rule them all - clinical perspectives of a potent suppressor of cytokine signaling - SOCS1

Frontiers in immunology
2024-04-22 | Review | Author
DOI: 10.3389/fimmu.2024.1385190
SOURCE-WORK-ID:

400dbd59-3925-4f43-8160-d5f1aba064f4

PMID: 38711523
EID:

2-s2.0-85192097859
Contributors: Julia Körholz; Lan-Sun Chen; Timmy Strauss; Catharina Schütz; Alexander H Dalpke
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FIS TU Dresden

Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID)

The Lancet Haematology
2024-02 | Journal article | Author
DOI: 10.1016/S2352-3026(23)00362-9
SOURCE-WORK-ID:

4a007a78-213d-457c-b78a-a516fe38861a

EID:

2-s2.0-85183528987

PMID: 38302222
Contributors: ALPID study group; Pauline Hägele; Paulina Staus; Raphael Scheible; Annette Uhlmann; Maximilian Heeg; Christian Klemann; Maria Elena Maccari; Henrike Ritterbusch; Martin Armstrong et al.
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FIS TU Dresden

Interim analysis

Journal of allergy and clinical immunology
2024-01 | Journal article | Author
DOI: 10.1016/j.jaci.2023.09.032
SOURCE-WORK-ID:

c8f27612-76d5-4206-b973-c4a424ac3cac

EID:

2-s2.0-85174673820

PMID: 37797893
Contributors: V. Koneti Rao; Elaine Kulm; Anna Šedivá; Alessandro Plebani; Catharina Schütz; Anna Shcherbina; Virgil A. Dalm; Antonino Trizzino; Yulia Zharankova; Sharon Webster et al.
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FIS TU Dresden

JAK-inhibitor treatment for inborn errors of JAK/STAT signaling

Journal of Allergy and Clinical Immunology
2023-11-05 | Journal article | Author
DOI: 10.1016/j.jaci.2023.10.018
SOURCE-WORK-ID:

f721f8ae-c327-4aba-b394-397f8150a9ea

PMID: 37935260
EID:

2-s2.0-85178371751
Contributors: Marco Fischer; Peter Olbrich; Jérôme Hadjadj; Volker Aumann; Shahrzad Bakhtiar; Vincent Barlogis; Philipp von Bismarck; Md PhD Markéta Bloomfield; Claire Booth; Emmeline P Buddingh et al.
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FIS TU Dresden

Activated phosphoinositide 3-kinase δ syndrome

Journal of allergy and clinical immunology
2023-10 | Journal article | Author
DOI: 10.1016/j.jaci.2023.06.015
SOURCE-WORK-ID:

a46c56e3-95aa-4338-abb4-a4161ada7d13

EID:

2-s2.0-85169451330

PMID: 37390899
Contributors: European Society for Immunodeficiencies Registry Working Party; Maria Elena Maccari; Martin Wolkewitz; Charlotte Schwab; Tiziana Lorenzini; Jennifer W. Leiding; Nathalie Aladjdi; Hassan Abolhassani; Wadih Abou-Chahla; Alessandro Aiuti et al.
Source: check_circle
FIS TU Dresden

Future Directions in the Diagnosis and Treatment of APDS and IEI

Frontiers in immunology
2023-10-05 | Journal article | Author
DOI: 10.3389/fimmu.2023.1279652
SOURCE-WORK-ID:

faf48ffc-68d5-4d42-a3e6-e14284f53008

EID:

2-s2.0-85174682076

PMID: 37868971
Contributors: Sven Vanselow; Leif Hanitsch; Fabian Hauck; Julia Körholz; Maria Elena Maccari; Andrea Meinhardt; Georgios Sogkas; Catharina Schütz; Bodo Grimbacher
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FIS TU Dresden

Novel mutation and expanding phenotype in IRF2BP2 deficiency

Rheumatology
2023-04 | Journal article | Author
DOI: 10.1093/rheumatology/keac575
SOURCE-WORK-ID:

3860978b-6c56-40a6-971e-fcf134332036

EID:

2-s2.0-85152160546

PMID: 36193988
Contributors: Julia Körholz; Anastasia Gabrielyan; Henrike Lisa Sczakiel; Livia Schulze; Manuela Rejzek; Martin W. Laass; Nicolai Leuchten; Oliver Tiebel; Diana Aust; Karsten Conrad et al.
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FIS TU Dresden

Transition for adolescents with a rare disease

Orphanet journal of rare diseases
2023-04-25 | Journal article | Author
DOI: 10.1186/s13023-023-02698-2
SOURCE-WORK-ID:

92dd862e-78c4-43a1-b10a-7c1b5682d74f

EID:

2-s2.0-85153839702

PMID: 37098531
Contributors: Corinna Grasemann; Jakob Höppner; Peter Burgard; Michael M. Schündeln; Nora Matar; Gabriele Müller; Heiko Krude; Reinhard Berner; Min Ae Lee-Kirsch; Fabian Hauck et al.
Source: check_circle
FIS TU Dresden

A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome

Blood
2023-03-02 | Journal article | Author
DOI: 10.1182/blood.2022018546
SOURCE-WORK-ID:

e061a978-0384-49eb-84cf-103ddecdb6ac

EID:

2-s2.0-85146126135

PMID: 36399712
Contributors: V. Koneti Rao; Sharon Webster; Anna Šedivá; Alessandro Plebani; Catharina Schütz; Anna Shcherbina; Niall Conlon; Tanya Coulter; Virgil A. Dalm; Antonino Trizzino et al.
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FIS TU Dresden

Hyper-IgE and Carcinoma in CADINS Disease

Frontiers in immunology
2022-05-16 | Journal article | Author
DOI: 10.3389/fimmu.2022.878989
SOURCE-WORK-ID:

2f41c04b-22d9-4f35-b0b2-dd71cc186db3

EID:

2-s2.0-85131271207

PMID: 35651609
Contributors: Leonora Pietzsch; Julia Körholz; Felix Boschann; Mildred Sergon; Batsukh Dorjbal; Debra Yee; Vanessa Gilly; Eva Kämmerer; Diana Paul; Clemens Kastl et al.
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FIS TU Dresden

One Gene, Many Facets

Frontiers in immunology
2021-08-05 | Journal article | Author
DOI: 10.3389/fimmu.2021.680334
SOURCE-WORK-ID:

6ef9b7a1-43f3-412f-a300-78de82eadcb1

PMID: 34421895
EID:

2-s2.0-85113139470
Contributors: Julia Körholz; Anastasia Gabrielyan; John M Sowerby; Felix Boschann; Lan-Sun Chen; Diana Paul; David Brandt; Janina Kleymann; Martin Kolditz; Nicole Toepfner et al.
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FIS TU Dresden

Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel Nonsense RASGRP2 Mutation

TH open : companion journal to thrombosis and haemostasis
2020-10 | Journal article | Author
DOI: 10.1055/s-0040-1718910
SOURCE-WORK-ID:

2ca37a1d-c657-4923-ba04-493c9905e9f3

PMID: 33376940
Contributors: Julia Körholz; Nadja Lucas; Franziska Boiti; Karina Althaus; Oliver Tiebel; Mingyan Fang; Reinhard Berner; Min Ae Lee-Kirsch; Ralf Knöfler
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FIS TU Dresden

A case of recurrent herpes simplex 2 encephalitis, VZV reactivations, and dominant partial interferon-gamma-receptor-1 deficiency supports relevance of IFNgamma for antiviral defense in humans

Molecular and Cellular Pediatrics
2020-10-14 | Journal article | Author
DOI: 10.1186/s40348-020-00106-4
SOURCE-WORK-ID:

cb283cf9-4f7c-4f56-8e99-7562b1f3e28e

PMID: 33051801
Contributors: Julia Körholz; Jochen Schäfer; Catharina Schütz; Joachim Roesler
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FIS TU Dresden

Selective increases in inter-individual variability in response to environmental enrichment in female mice

eLife
2018-10-26 | Journal article | Author
DOI: 10.7554/eLife.35690
SOURCE-WORK-ID:

aa684fe7-2718-4137-b6dd-43aca06809e9

EID:

2-s2.0-85055615644
Contributors: Julia Körholz; Sara Zocher; Anna N Grzyb; Benjamin Morisse; Alexandra Poetzsch; Fanny Ehret; Christopher Schmied; Gerd Kempermann
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FIS TU Dresden
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