Detalhe da pesquisa
1.
Survival in primary hemophagocytic lymphohistiocytosis, 2016 to 2021: etoposide is better than its reputation.
Blood
; 143(10): 872-881, 2024 Mar 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37992218
2.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37979702
3.
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
4.
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
Inglês
| MEDLINE | ID: mdl-34033843
5.
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD.
J Clin Immunol
; 42(1): 36-45, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34586554
6.
Consensus-Based Guidelines for the Recognition, Diagnosis, and Management of Hemophagocytic Lymphohistiocytosis in Critically Ill Children and Adults.
Crit Care Med
; 50(5): 860-872, 2022 05 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34605776
7.
HSCT is effective in patients with PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome.
J Allergy Clin Immunol
; 148(1): 250-255.e1, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33338535
8.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34477998
9.
Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity.
Clin Immunol
; 210: 108316, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31770611
10.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-28132690
11.
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
Inglês
| MEDLINE | ID: mdl-32458183
12.
Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.
J Clin Immunol
; 40(6): 901-916, 2020 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32638196
13.
Treatment dilemmas in asymptomatic children with primary hemophagocytic lymphohistiocytosis.
Blood
; 132(19): 2088-2096, 2018 11 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30104219
14.
Risk factors for mixed chimerism in children with hemophagocytic lymphohistiocytosis after reduced toxicity conditioning.
Pediatr Blood Cancer
; 67(9): e28523, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32618429
15.
A multicenter study of patients with multisystem Langerhans cell histiocytosis who develop secondary hemophagocytic lymphohistiocytosis.
Cancer
; 125(6): 963-971, 2019 03 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30521100
16.
Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study.
Blood
; 130(25): 2728-2738, 2017 12 21.
Artigo
Inglês
| MEDLINE | ID: mdl-28935695
17.
T-cell gene therapy for perforin deficiency corrects cytotoxicity defects and prevents hemophagocytic lymphohistiocytosis manifestations.
J Allergy Clin Immunol
; 142(3): 904-913.e3, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29355678
18.
Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.
J Allergy Clin Immunol
; 142(6): 1956-1967.e6, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29778503
19.
Primary and secondary hemophagocytic lymphohistiocytosis have different patterns of T-cell activation, differentiation and repertoire.
Eur J Immunol
; 47(2): 364-373, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27925643
20.
Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
Blood
; 127(8): 997-1006, 2016 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26744459