Detalhe da pesquisa
1.
DNA sensing via the cGAS/STING pathway activates the immunoproteasome and adaptive T-cell immunity.
EMBO J
; 42(8): e110597, 2023 04 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36912165
2.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38194689
3.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
Inglês
| MEDLINE | ID: mdl-36223592
4.
Multilayer concept of autoimmune mechanisms and manifestations in inborn errors of immunity: Relevance for precision therapy.
J Allergy Clin Immunol
; 153(3): 615-628.e4, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38185417
5.
Impact of newborn screening for SCID on the management of congenital athymia.
J Allergy Clin Immunol
; 153(1): 330-334, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37678573
6.
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
Inglês
| MEDLINE | ID: mdl-37935260
7.
Hematopoietic stem cell transplantation for Wiskott-Aldrich syndrome: an EBMT Inborn Errors Working Party analysis.
Blood
; 139(13): 2066-2079, 2022 03 31.
Artigo
Inglês
| MEDLINE | ID: mdl-35100336
8.
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study.
Blood
; 140(14): 1635-1649, 2022 10 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35344580
9.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37390899
10.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37741518
11.
Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.
Am J Hum Genet
; 107(1): 34-45, 2020 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32497488
12.
Allogeneic HSCT for Symptomatic Female X-linked Chronic Granulomatous Disease Carriers.
J Clin Immunol
; 43(8): 1964-1973, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37620741
13.
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 1, 2023 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38100037
14.
An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.
J Clin Immunol
; 43(8): 1827-1839, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37454339
15.
The GAIN Registry - a New Prospective Study for Patients with Multi-organ Autoimmunity and Autoinflammation.
J Clin Immunol
; 43(6): 1289-1301, 2023 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37084016
16.
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
Inglês
| MEDLINE | ID: mdl-36843153
17.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34183371
18.
The Human Phenotype Ontology in 2021.
Nucleic Acids Res
; 49(D1): D1207-D1217, 2021 01 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33264411
19.
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
J Allergy Clin Immunol
; 150(4): 955-964.e16, 2022 10.
Artigo
Inglês
| MEDLINE | ID: mdl-35182547
20.
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
Inglês
| MEDLINE | ID: mdl-33991581