Detalhe da pesquisa
1.
STAT3 gain-of-function mutations connect leukemia with autoimmune disease by pathological NKG2Dhi CD8+ T cell dysregulation and accumulation.
Immunity
; 55(12): 2386-2404.e8, 2022 12 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36446385
2.
Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling.
J Clin Immunol
; 43(2): 358-370, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36260239
3.
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
J Clin Immunol
; 40(3): 503-514, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32072341
4.
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.
Acta Derm Venereol
; 99(9): 789-796, 2019 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31037311
5.
Fecal Calprotectin Test Performed at Home: A Prospective Study of Pediatric Patients With Inflammatory Bowel Disease.
J Pediatr Gastroenterol Nutr
; 66(6): 926-931, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240011
6.
Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.
Blood
; 125(4): 639-48, 2015 Jan 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25349174
7.
Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.
NPJ Genom Med
; 4: 14, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31263572
8.
Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia.
Hum Mutat
; 20(6): 480-1, 2002 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-12442285
9.
Skin reactions during anti-TNFα therapy for pediatric inflammatory bowel disease: a 2-year prospective study.
Inflamm Bowel Dis
; 20(8): 1309-15, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24918318
10.
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.
Nat Genet
; 46(8): 812-814, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25038750
11.
Orofacial granulomatosis in children--a challenge for diagnosis and treatment.
Int J Pediatr Otorhinolaryngol
; 75(6): 864-7, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21458863
12.
[Repeated abdominal pain of teenage girls, gynecological or other problem?]. / Murrosikäisten tyttöjen toistuvat vatsa- kivut--gynekologinen vai muu ongelma?
Duodecim
; 121(17): 1889-98, 2005.
Artigo
em Finlandês
| MEDLINE | ID: mdl-16262132
13.
[Update on current care guidelines. Proper care of medical problems connected to Down Syndrome]. / Downin oireyhtymään liittyvien lääketieteellisten ongelmien hyvä hoito.
Duodecim
; 121(19): 2118-9, 2005.
Artigo
em Finlandês
| MEDLINE | ID: mdl-16300301