Detalhe da pesquisa
1.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499645
2.
Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 584(7819): E2, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678341
3.
Inborn Errors of Immunity on the Island of Ireland - a Cross-Jurisdictional UKPID/ESID Registry Report.
J Clin Immunol
; 42(6): 1293-1299, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35604475
4.
Risk stratification through allergy history: single-centre experience of specialized COVID-19 vaccine clinic.
Clin Exp Immunol
; 209(2): 182-187, 2022 08 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753019
5.
Overview of antibody-mediated immunity to S. pneumoniae: pneumococcal infections, pneumococcal immunity assessment, and recommendations for IG product evaluation.
Transfusion
; 58 Suppl 3: 3106-3113, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30536434
6.
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
J Allergy Clin Immunol
; 139(2): 597-606.e4, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27555459
7.
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
8.
Correction to: Inborn Errors of Immunity on the Island of Ireland - a CrossJurisdictional UKPID/ESID Registry Report.
J Clin Immunol
; 42(6): 1300, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35731325
9.
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
10.
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.
J Allergy Clin Immunol
; 143(5): 1952-1956.e6, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30682461
11.
Liver disease predicts mortality in patients with X-linked immunodeficiency with hyper-IgM but can be prevented by early hematopoietic stem cell transplantation.
J Allergy Clin Immunol
; 141(1): 405-408.e7, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28756297
12.
Etanercept and anakinra can prolong febrile episodes in patients with hyperimmunoglobulin D and periodic fever syndrome.
Rheumatol Int
; 32(1): 249-51, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20020131
13.
Identification of diagnostic biomarkers for infection in premature neonates.
Mol Cell Proteomics
; 7(10): 1863-75, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18622029
14.
A prospective study of the sensitivity, specificity and diagnostic performance of soluble intercellular adhesion molecule 1, highly sensitive C-reactive protein, soluble E-selectin and serum amyloid A in the diagnosis of neonatal infection.
BMC Pediatr
; 10: 22, 2010 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20398379
15.
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.
J Allergy Clin Immunol
; 134(1): 233-6, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698326
16.
A systematic literature review of the effects of immunoglobulin replacement therapy on the burden of secondary immunodeficiency diseases associated with hematological malignancies and stem cell transplants.
Expert Rev Clin Immunol
; 16(9): 911-921, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32783541
17.
X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
World Allergy Organ J
; 12(3): 100018, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30937141
18.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Front Immunol
; 9: 543, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29599784
19.
Adherence to best practice guidelines in chronic spontaneous urticaria (CSU) improves patient outcome.
Eur J Dermatol
; 24(3): 385-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24682625
20.
A diagnostic dilemma: a case report.
Cases J
; 2(1): 99, 2009 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-19178696