Detalhe da pesquisa
1.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34155405
2.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell
; 172(5): 952-965.e18, 2018 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29474921
3.
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations.
J Clin Immunol
; 44(5): 124, 2024 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38758476
4.
Novel STAT1 Variants in Japanese Patients with Isolated Mendelian Susceptibility to Mycobacterial Diseases.
J Clin Immunol
; 43(2): 466-478, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36336768
5.
Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.
J Clin Immunol
; 44(1): 18, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129603
6.
Fatal COVID-19 Infection in Two Children with STAT1 Gain-of-Function.
J Clin Immunol
; 44(1): 20, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129739
7.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol
; 207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183371
8.
Enhanced osteoclastogenesis in patients with MSMD due to impaired response to IFN-γ.
J Allergy Clin Immunol
; 149(1): 252-261.e6, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176646
9.
Neutralizing Type I Interferon Autoantibodies in Japanese Patients with Severe COVID-19.
J Clin Immunol
; 42(7): 1360-1370, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764767
10.
Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
J Clin Immunol
; 41(4): 780-790, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33501615
11.
Inherited CARD9 Deficiency in a Child with Invasive Disease Due to Exophiala dermatitidis and Two Older but Asymptomatic Siblings.
J Clin Immunol
; 41(5): 975-986, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33558980
12.
IRAK4 Deficiency Presenting with Anti-NMDAR Encephalitis and HHV6 Reactivation.
J Clin Immunol
; 41(1): 125-135, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33083971
13.
Novel STAT-3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype.
Clin Exp Immunol
; 205(3): 354-362, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34050927
14.
Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice.
Int Immunol
; 32(4): 259-272, 2020 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31867619
15.
Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations.
Int Immunol
; 32(10): 663-671, 2020 09 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603428
16.
Abnormal hematopoiesis and autoimmunity in human subjects with germline IKZF1 mutations.
J Allergy Clin Immunol
; 140(1): 223-231, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939403
17.
Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.
J Allergy Clin Immunol
; 140(1): 232-241, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28011069
18.
Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
Mol Genet Metab
; 122(3): 67-75, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28801073
19.
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer.
J Clin Immunol
; 36(1): 28-32, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26644313
20.
Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.
J Clin Immunol
; 41(4): 791-794, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33694042