Detalhe da pesquisa
1.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499645
2.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678341
3.
A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.
Blood
; 141(9): 971-983, 2023 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399712
4.
Interim analysis: Open-label extension study of leniolisib for patients with APDS.
J Allergy Clin Immunol
; 153(1): 265-274.e9, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37797893
5.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
6.
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease.
J Clin Immunol
; 44(2): 48, 2024 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231347
7.
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
J Allergy Clin Immunol
; 152(5): 1336-1344.e5, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37544411
8.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
J Allergy Clin Immunol
; 151(5): 1391-1401.e7, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621650
9.
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.
J Clin Immunol
; 43(8): 1964-1973, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37620741
10.
Prospective Newborn Screening for SCID in Germany: A First Analysis by the Pediatric Immunology Working Group (API).
J Clin Immunol
; 43(5): 965-978, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36843153
11.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford)
; 62(4): 1699-1705, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193988
12.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
13.
Update of evidence- and consensus-based guidelines for the treatment of juvenile idiopathic arthritis (JIA) by the German Society of Pediatric and Juvenile Rheumatic Diseases (GKJR): New perspectives on interdisciplinary care.
Clin Immunol
; 245: 109143, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36191738
14.
Biomarkers of DNA Damage Response Enable Flow Cytometry-Based Diagnostic to Identify Inborn DNA Repair Defects in Primary Immunodeficiencies.
J Clin Immunol
; 42(2): 286-298, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716846
15.
MRP8/14 serum levels as diagnostic markers for systemic juvenile idiopathic arthritis in children with prolonged fever.
Rheumatology (Oxford)
; 61(7): 3082-3092, 2022 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34559193
16.
[Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis]. / Chronische oder schwere Darmerkrankung und Immundefekt: Manchmal ist es doch ein Kolibri.
Z Gastroenterol
; 60(11): 1668-1677, 2022 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-35297030
17.
Therapeutic approaches to pediatric COVID-19: an online survey of pediatric rheumatologists.
Rheumatol Int
; 41(5): 911-920, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683393
18.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
J Allergy Clin Immunol
; 146(5): 1165-1179.e11, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32311393
19.
Correction of both immunodeficiency and hypoparathyroidism by thymus transplantation in complete DiGeorge syndrome.
Am J Transplant
; 20(5): 1447-1450, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663273
20.
Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
J Allergy Clin Immunol
; 143(6): 2238-2253, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30660643