Detalhe da pesquisa
1.
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence.
J Clin Immunol
; 42(3): 559-571, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35000057
2.
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.
J Clin Immunol
; 42(5): 975-985, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338423
3.
[Late diagnosis of WHIM sydrome]. / Diagnóstico tardío de síndrome WHIM.
Medicina (B Aires)
; 78(2): 123-126, 2018.
Artigo
em Espanhol
| MEDLINE | ID: mdl-29659363
4.
CD62-L down-regulation after L18-MDP stimulation as a complementary flow cytometry functional assay for the diagnosis of XIAP deficiency.
Cytometry B Clin Cytom
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770762
5.
Expanding spectrum, intrafamilial diversity, and therapeutic challenges from 15 patients with heterozygous CARD11-associated diseases: A single center experience.
Front Immunol
; 13: 1020927, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36405754
6.
Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
J Clin Immunol
; 30(2): 330-7, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19967551
7.
Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.
J Clin Immunol
; 29(1): 123-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18677443
8.
Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(8): 1192-1201, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28628108
9.
Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.
Nat Genet
; 49(11): 1661, 2017 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-29074947
10.
Diagnóstico tardío de síndrome WHIM / Late diagnosis of WHIM sydrome
Medicina (B.Aires)
; 78(2): 123-126, abr. 2018. ilus, graf
Artigo
em Espanhol
| LILACS | ID: biblio-954961