Detalhe da pesquisa
1.
Impact of newborn screening for SCID on the management of congenital athymia.
J Allergy Clin Immunol
; 153(1): 330-334, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37678573
2.
Favipiravir induces HuNoV viral mutagenesis and infectivity loss with clinical improvement in immunocompromised patients.
Clin Immunol
; 259: 109901, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38218209
3.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol
; 255: 109757, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37689091
4.
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 43(2): 247-270, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648576
5.
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
6.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
; 136(23): 2638-2655, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603431
7.
Expanding the Nude SCID/CID Phenotype Associated with FOXN1 Homozygous, Compound Heterozygous, or Heterozygous Mutations.
J Clin Immunol
; 41(4): 756-768, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33464451
8.
Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia.
J Clin Immunol
; 41(8): 1878-1892, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477998
9.
Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center.
Blood
; 133(24): 2586-2596, 2019 06 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015189
10.
T cell phenotype in paediatric heart transplant recipients.
Pediatr Transplant
; 25(5): e13930, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33326675
11.
ADA2 deficiency complicated by EBV-driven lymphoproliferative disease.
Clin Immunol
; 215: 108443, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32353633
12.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
13.
Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined.
Eur J Immunol
; 49(5): 790-800, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30801692
14.
Diagnosis and management of severe combined immunodeficiency in Australia and New Zealand.
J Paediatr Child Health
; 56(10): 1508-1513, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-33099818
15.
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
J Clin Immunol
; 44(2): 53, 2024 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38252398
16.
Transplanted human thymus slices induce and support T-cell development in mice after cryopreservation.
Eur J Immunol
; 48(4): 716-719, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29318612
17.
Chronic Cholangiopathy Associated with Primary Immune Deficiencies Can Be Resolved by Effective Hematopoietic Stem Cell Transplantation.
J Pediatr
; 209: 97-106.e2, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30850087
18.
Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Clin Immunol
; 256: 109799, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845128
19.
First Use of Thymus Transplantation in PAX1 Deficiency.
J Clin Immunol
; 43(6): 1127-1130, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37060484
20.
Thymus transplantation for complete DiGeorge syndrome: European experience.
J Allergy Clin Immunol
; 140(6): 1660-1670.e16, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28400115