Detalhe da pesquisa
1.
Lung disease in STAT3 hyper-IgE syndrome requires intense therapy.
Allergy
; 74(9): 1691-1702, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30793327
2.
Outcome of hematopoietic cell transplantation for DNA double-strand break repair disorders.
J Allergy Clin Immunol
; 141(1): 322-328.e10, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28392333
3.
Severe glucose-6-phosphate dehydrogenase deficiency leads to susceptibility to infection and absent NETosis.
J Allergy Clin Immunol
; 139(1): 212-219.e3, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27458052
4.
Mutation in an exonic splicing enhancer site causing chronic granulomatous disease.
Blood Cells Mol Dis
; 66: 50-57, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28886419
5.
The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency.
J Allergy Clin Immunol
; 137(1): 223-230, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768763
6.
Key findings to expedite the diagnosis of hyper-IgE syndromes in infants and young children.
Pediatr Allergy Immunol
; 27(2): 177-84, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26592211
7.
Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
J Clin Immunol
; 35(6): 538-49, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26271390
8.
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study.
Lancet
; 383(9915): 436-48, 2014 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24161820
9.
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
10.
Very early onset inflammatory bowel disease associated with aberrant trafficking of IL-10R1 and cure by T cell replete haploidentical bone marrow transplantation.
J Clin Immunol
; 34(3): 331-9, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24519095
11.
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 131(3): 840-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23380217
12.
Lung parenchyma surgery in autosomal dominant hyper-IgE syndrome.
J Clin Immunol
; 33(5): 896-902, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23584561
13.
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
J Clin Immunol
; 33(6): 1088-99, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23708964
14.
Efficacy of gene therapy for X-linked severe combined immunodeficiency.
N Engl J Med
; 363(4): 355-64, 2010 Jul 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20660403
15.
Novel mutation in Hermansky-Pudlak syndrome type 2 with mild immunological phenotype.
Platelets
; 24(7): 538-43, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23215637
16.
Hematologically important mutations: leukocyte adhesion deficiency (first update).
Blood Cells Mol Dis
; 48(1): 53-61, 2012 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22134107
17.
X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options.
Blood
; 115(16): 3231-8, 2010 Apr 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-20173115
18.
Clinical and immunological correction of DOCK8 deficiency by allogeneic hematopoietic stem cell transplantation following a reduced toxicity conditioning regimen.
Pediatr Hematol Oncol
; 29(7): 585-94, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22897717
19.
Insertional oncogenesis in 4 patients after retrovirus-mediated gene therapy of SCID-X1.
J Clin Invest
; 118(9): 3132-42, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18688285
20.
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.
Blood
; 113(9): 1967-76, 2009 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18981294