Detalhe da pesquisa
1.
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencing.
J Allergy Clin Immunol
; 153(1): 297-308.e12, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979702
2.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
3.
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
4.
Multiorgan involvement and management in children with Down syndrome.
Acta Paediatr
; 109(6): 1096-1111, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31899550
5.
Topical cidofovir for the treatment of recalcitrant viral warts and molluscum contagiosum in Jacobsen syndrome.
Pediatr Dermatol
; 37(6): 1191-1192, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32897593
6.
Altered endotoxin responsiveness in healthy children with Down syndrome.
BMC Immunol
; 19(1): 31, 2018 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30390640
7.
Cutaneous Eruption Associated with Sirolimus in a Child with FAS-Associated Autoimmune Lymphoproliferative Syndrome.
J Clin Immunol
; 43(7): 1537-1539, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369913
8.
CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome.
Immunol Cell Biol
; 96(10): 1060-1071, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790605
9.
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
10.
Acute Genital Swelling Heralding C1 Esterase Inhibitor Deficiency in a Child.
Pediatr Dermatol
; 34(5): e277-e278, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28730616
11.
Severe Combined Immunodeficiency (SCID)-the Irish Experience.
J Clin Immunol
; 41(8): 1950-1953, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34374883
12.
Changes in airway inflammation during pulmonary exacerbations in patients with cystic fibrosis and primary ciliary dyskinesia.
Eur Respir J
; 47(3): 829-36, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26585432
13.
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation.
Blood
; 124(12): 1894-904, 2014 Sep 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122610
14.
Variant ataxia telangiectasia identified during evaluation for short stature.
BMJ Case Rep
; 17(3)2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38453233
15.
Experience of pediatric to adult transition in immunology services: patient experience questionnaire and micro-costing analysis.
Front Immunol
; 15: 1270451, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38510252
16.
Diagnostic evaluation of paediatric autoimmune lymphoproliferative immunodeficiencies (ALPID): a prospective cohort study.
Lancet Haematol
; 11(2): e114-e126, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38302222
17.
Double Trouble? CMC with a Mutation in both AIRE and STAT1.
J Clin Immunol
; 38(6): 635-637, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30054782
18.
Innate immune dysregulation in multisystem inflammatory syndrome in children (MIS-C).
Sci Rep
; 13(1): 16463, 2023 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37777557
19.
Incomplete Kawasaki disease associated with complicated Streptococcus pyogenes pneumonia: A case report.
Can J Infect Dis Med Microbiol
; 23(3): 137-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23997782
20.
Roifman syndrome: a description of further immunological and radiological features.
BMJ Case Rep
; 15(4)2022 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35450878