Detalhe da pesquisa
1.
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
Blood
; 142(15): 1281-1296, 2023 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37478401
2.
Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades.
Am J Med Genet A
; 182(7): 1767-1775, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32297715
3.
Latin American consensus on the supportive management of patients with severe combined immunodeficiency.
J Allergy Clin Immunol
; 144(4): 897-905, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-31419546
4.
[Severe combined immunodeficiency, report of chilean patients diagnosed during the 1999-2020 period]. / Inmunodeficiencia Combinada Severa, reporte de pacientes chilenos diagnosticados durante el período 1999-2020.
Rev Chil Pediatr
; 91(6): 908-916, 2020 Dec.
Artigo
Espanhol
| MEDLINE | ID: mdl-33861827
5.
Genomic diagnostics within a medically underserved population: efficacy and implications.
Genet Med
; 20(1): 31-41, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28726809
6.
Interaction between the RNA-dependent ATPase and poly(A) polymerase subunits of the TRAMP complex is mediated by short peptides and important for snoRNA processing.
Nucleic Acids Res
; 43(3): 1848-58, 2015 Feb 18.
Artigo
Inglês
| MEDLINE | ID: mdl-25589546
7.
The Mtr4 ratchet helix and arch domain both function to promote RNA unwinding.
Nucleic Acids Res
; 42(22): 13861-72, 2014 Dec 16.
Artigo
Inglês
| MEDLINE | ID: mdl-25414331
8.
The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations.
J Clin Immunol
; 40(2): 415-417, 2020 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31993868
9.
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry.
Pediatr Blood Cancer
; 62(12): 2101-7, 2015 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-26185101
10.
Attending to warning signs of primary immunodeficiency diseases across the range of clinical practice.
J Clin Immunol
; 34(1): 10-22, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24241582
11.
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
J Clin Immunol
; 34(2): 146-56, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24402618
12.
Abnormalities of T-cell receptor repertoire in CD4+ regulatory and conventional T cells in patients with RAG mutations: Implications for autoimmunity.
J Allergy Clin Immunol
; 140(6): 1739-1743.e7, 2017 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28864286
13.
Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.
J Allergy Clin Immunol
; 128(1): 139-146, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21570718
14.
Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Front Immunol
; 13: 900605, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36268024
15.
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
J Allergy Clin Immunol
; 136(5): 1401-4.e1-3, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26409660
16.
[Serratia marcescens multifocal osteomyelitis in a child with chronic granulomatous disease]. / Osteomielitis multifocal por Serratia marcescens en un niño con enfermedad granulomatosa crónica.
Rev Chilena Infectol
; 38(4): 574-579, 2021 Aug.
Artigo
Espanhol
| MEDLINE | ID: mdl-34652406
17.
Mutation spectrum of NOD2 reveals recessive inheritance as a main driver of Early Onset Crohn's Disease.
Sci Rep
; 11(1): 5595, 2021 03 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33692434
18.
Tissue specific diversification, virulence and immune response to Mycobacterium bovis BCG in a patient with an IFN-γ R1 deficiency.
Virulence
; 11(1): 1656-1673, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33356838
19.
Cytomegalovirus infection in children undergoing hematopoietic stem cell transplantation in Chile.
Pediatr Blood Cancer
; 53(3): 453-8, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19418548
20.
Novel Heterozygous Mutation in NFKB2 Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome.
Front Pediatr
; 7: 303, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31417880