Detalhe da pesquisa
1.
Novel mutation and expanding phenotype in IRF2BP2 deficiency.
Rheumatology (Oxford)
; 62(4): 1699-1705, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36193988
2.
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update).
Blood Cells Mol Dis
; 92: 102596, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547651
3.
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update).
Blood Cells Mol Dis
; 90: 102587, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34175765
4.
Outcome of chronic granulomatous disease - Conventional treatment vs stem cell transplantation.
Pediatr Allergy Immunol
; 32(3): 576-585, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118209
5.
Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome.
Blood
; 127(18): 2193-202, 2016 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26907631
6.
International multi-centre study of pregnancy outcomes with interleukin-1 inhibitors.
Rheumatology (Oxford)
; 56(12): 2102-2108, 2017 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28968868
7.
Neutrophil oxidative burst activates ATM to regulate cytokine production and apoptosis.
Blood
; 126(26): 2842-51, 2015 Dec 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26491069
8.
Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs.
Mol Ther
; 24(4): 812-22, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26316390
9.
Variant PIK3R1 Hypermorphic Mutation and Clinical Phenotypes in a Family with Short Statures, Mild Immunodeficiency and Lymphoma.
Klin Padiatr
; 229(3): 113-117, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28561224
10.
More severe than CVID: Combined immunodeficiency due to a novel NFKB2 mutation.
Pediatr Allergy Immunol
; 32(4): 793-797, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369776
11.
Human procaspase-1 variants with decreased enzymatic activity are associated with febrile episodes and may contribute to inflammation via RIP2 and NF-κB signaling.
J Immunol
; 192(9): 4379-85, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24706726
12.
Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease.
Curr Rheumatol Rep
; 17(7): 45, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26003867
13.
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.
J Allergy Clin Immunol
; 134(1): 116-26, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24582312
14.
Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.
J Allergy Clin Immunol
; 132(2): 400-11.e9, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830147
15.
Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1ß.
Hum Mutat
; 34(1): 122-31, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833538
16.
Somatic loss of heterozygosity, but not haploinsufficiency alone, leads to full-blown autoimmune lymphoproliferative syndrome in 1 of 12 family members with FAS start codon mutation.
Clin Immunol
; 147(1): 61-68, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23524443
17.
Myeloperoxidase is required for neutrophil extracellular trap formation: implications for innate immunity.
Blood
; 117(3): 953-9, 2011 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-20974672
18.
Hyper-IgE and Carcinoma in CADINS Disease.
Front Immunol
; 13: 878989, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35651609
19.
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis.
J Allergy Clin Immunol
; 126(3): 611-7.e1, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20816194
20.
Hematopoietic Stem Cell Transplantation Cures Therapy-refractory Aspergillosis in Chronic Granulomatous Disease.
Pediatr Infect Dis J
; 40(7): 649-654, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34097656