Detalhe da pesquisa
1.
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Eur J Immunol
; 50(7): 1078-1080, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32181500
2.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Blood
; 128(2): 227-38, 2016 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27099149
3.
Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency.
J Allergy Clin Immunol
; 136(3): 703-712.e10, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25843314
4.
UNC93B1 variants underlie TLR7-dependent autoimmunity.
Sci Immunol
; 9(92): eadi9769, 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38207055
5.
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.
Haematologica
; 102(2): e52-e56, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27789675
6.
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50.
Front Immunol
; 13: 965326, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36105815
7.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
J Allergy Clin Immunol
; 124(6): 1289-302.e4, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20004785
8.
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