Detalhe da pesquisa
1.
Inherited human ezrin deficiency impairs adaptive immunity.
J Allergy Clin Immunol
; 152(4): 997-1009.e11, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37301410
2.
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
J Allergy Clin Immunol
; 143(1): 359-368, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30273710
3.
Anti-NF155 chronic inflammatory demyelinating polyradiculoneuropathy strongly associates to HLA-DRB15.
J Neuroinflammation
; 14(1): 224, 2017 Nov 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29145880
4.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Nat Genet
; 37(7): 692-700, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15924140
5.
From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family.
Pediatr Allergy Immunol
; 23(7): 660-6, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22882342
6.
Chronic hypogammaglobulinemia after allogeneic stem cell transplantation and their treatment with subcutaneous immunoglobulin in pediatric patients.
An Pediatr (Engl Ed)
; 97(2): 103-111, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35869014
7.
Non-myeloablative hematopoietic stem cell transplantation in the treatment of severe idiopathic CD4+ lymphocytopenia.
Eur J Haematol
; 87(1): 87-91, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21447008
8.
Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.
Mol Immunol
; 45(2): 479-84, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17658607
9.
A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis.
Mol Immunol
; 68(2 Pt C): 597-605, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26514428
10.
Polymorphisms of Pyrimidine Pathway Enzymes Encoding Genes and HLA-B*40â¶01 Carriage in Stavudine-Associated Lipodystrophy in HIV-Infected Patients.
PLoS One
; 8(6): e67035, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23840581
11.
The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred.
Mol Immunol
; 52(3-4): 237-41, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22750225
12.
A novel mutation in the TAP2 gene in bare lymphocyte syndrome: association with metastatic cutaneous squamous cell carcinoma.
Arch Dermatol
; 146(1): 96-8, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20083708