Detalhe da pesquisa
1.
Rubella vaccine-induced granulomas are a novel phenotype with incomplete penetrance of genetic defects in cytotoxicity.
J Allergy Clin Immunol
; 149(1): 388-399.e4, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34033843
2.
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
3.
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Eur J Immunol
; 50(7): 1078-1080, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181500
4.
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie.
J Clin Immunol
; 40(5): 708-717, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32458183
5.
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Allergy
; 74(9): 1691-1702, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30793327
6.
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.
J Clin Immunol
; 36(1): 73-84, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26604104
7.
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Pediatr Allergy Immunol
; 27(2): 177-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26592211
8.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol
; 136(3): 703-712.e10, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843314
9.
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
J Clin Immunol
; 35(2): 189-98, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25627830
10.
Reversible pancytopenia and immunodeficiency in a patient with hereditary folate malabsorption.
Pediatr Blood Cancer
; 62(6): 1091-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504888
11.
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
J Allergy Clin Immunol
; 143(6): 2296-2299, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30771411
12.
UNC93B1 variants underlie TLR7-dependent autoimmunity.
Sci Immunol
; 9(92): eadi9769, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38207055
13.
Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia.
Haematologica
; 98(12): 1948-55, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23850805
14.
Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Cancer Med
; 12(13): 14663-14673, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264737
15.
Human RAD52 - a novel player in DNA repair in cancer and immunodeficiency.
Haematologica
; 102(2): e69-e72, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27979922
16.
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Front Immunol
; 13: 965326, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36105815
17.
Analysis of chromosomal aberrations and γH2A.X foci to identify radiation-sensitive ataxia-telangiectasia patients.
Mutat Res Genet Toxicol Environ Mutagen
; 861-862: 503301, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33551102
18.
A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS.
J Exp Med
; 218(2)2021 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33170215
19.
Retained primary teeth in STAT3 hyper-IgE syndrome: early intervention in childhood is essential.
Orphanet J Rare Dis
; 15(1): 244, 2020 09 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32912316
20.
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Inflamm Bowel Dis
; 23(12): 2109-2120, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28930861