Detalhe da pesquisa
1.
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
2.
DOCK8 deficiency: clinical and immunological phenotype and treatment options - a review of 136 patients.
J Clin Immunol
; 35(2): 189-98, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25627830
3.
X-linked thrombocytopenia in three males with normal sized platelets due to novel WAS gene mutations.
Pediatr Blood Cancer
; 61(12): 2305-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25154619
4.
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
5.
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
6.
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
7.
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
8.
Beneficial IFN-α treatment of tumorous herpes simplex blepharoconjunctivitis in dedicator of cytokinesis 8 deficiency.
J Allergy Clin Immunol
; 133(5): 1456-8, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698314
9.
Challenges of genetic counseling in patients with autosomal dominant diseases, such as the hyper-IgE syndrome (STAT3-HIES).
J Allergy Clin Immunol
; 130(6): 1426-8, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-22981789
10.
Chronic Candida albicans Meningitis in a 4-Year-Old Girl with a Homozygous Mutation in the CARD9 Gene (Q295X).
Pediatr Infect Dis J
; 34(9): 999-1002, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25933095
11.
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.
J Exp Med
; 208(8): 1635-48, 2011 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21727188