Detalhe da pesquisa
1.
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.
Nat Immunol
; 12(3): 213-21, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21278736
2.
Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.
Hum Mol Genet
; 20(8): 1509-23, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21266457
3.
Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.
Am J Med Genet A
; 152A(3): 622-9, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20186794
4.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Medicine (Baltimore)
; 92(2): 109-122, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23429356
5.
IL-12Rß1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey.
PLoS One
; 6(4): e18524, 2011 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21533230
6.
Revisiting human IL-12Rß1 deficiency: a survey of 141 patients from 30 countries.
Medicine (Baltimore)
; 89(6): 381-402, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21057261
7.
Pyogenic bacterial infections in humans with MyD88 deficiency.
Science
; 321(5889): 691-6, 2008 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18669862
8.
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.
J Exp Med
; 205(7): 1543-50, 2008 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18591412