Detalhe da pesquisa
1.
Biologically indeterminate yet ordered promiscuous gene expression in single medullary thymic epithelial cells.
EMBO J
; 39(1): e101828, 2020 01 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31657037
2.
Resolving the polygenic aetiology of a late onset combined immune deficiency caused by NFKB1 haploinsufficiency and modified by PIK3R1 and TNFRSF13B variants.
Clin Immunol
; 234: 108910, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34922003
3.
Outcomes following SARS-CoV-2 infection in patients with primary and secondary immunodeficiency in the UK.
Clin Exp Immunol
; 209(3): 247-258, 2022 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35641155
4.
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
5.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
J Allergy Clin Immunol
; 139(4): 1282-1292, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27697500
6.
Secondary immunodeficiency in lymphoproliferative malignancies.
Hematol Oncol
; 34(3): 121-32, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27402426
7.
Identification of a novel mutation in MAGT1 and progressive multifocal leucoencephalopathy in a 58-year-old man with XMEN disease.
J Clin Immunol
; 35(2): 112-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504528
8.
Antibody deficiency secondary to chronic lymphocytic leukemia: Should patients be treated with prophylactic replacement immunoglobulin?
J Clin Immunol
; 34(3): 277-82, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24557494
9.
Combined multidimensional single-cell protein and RNA profiling dissects the cellular and functional heterogeneity of thymic epithelial cells.
Nat Commun
; 14(1): 4071, 2023 07 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37429879
10.
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Genome Med
; 15(1): 94, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946251
11.
Developmental dynamics of the neural crest-mesenchymal axis in creating the thymic microenvironment.
Sci Adv
; 8(19): eabm9844, 2022 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35559672
12.
Inborn errors of thymic stromal cell development and function.
Semin Immunopathol
; 43(1): 85-100, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33257998
13.
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.
Sci Adv
; 7(49): eabj9247, 2021 Dec 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34860543
14.
Histology of Interstitial Lung Disease in Common Variable Immune Deficiency.
Front Immunol
; 11: 605187, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33329602
15.
Ageing compromises mouse thymus function and remodels epithelial cell differentiation.
Elife
; 92020 08 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32840480
16.
Sequencing of human genomes with nanopore technology.
Nat Commun
; 10(1): 1869, 2019 04 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31015479
17.
FOXN1 deficient nude severe combined immunodeficiency.
Orphanet J Rare Dis
; 12(1): 6, 2017 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077132
18.
Challenges in the Role of Gammaglobulin Replacement Therapy and Vaccination Strategies for Hematological Malignancy.
Front Immunol
; 7: 317, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27597852
19.
Secondary antibody deficiencies.
Curr Opin Allergy Clin Immunol
; 15(6): 505-13, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26406183
20.
A man with thrombocytopenia.
BMJ
; 344: e826, 2012 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22344305