Detalhe da pesquisa
1.
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
N Engl J Med
; 389(6): 527-539, 2023 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37342957
2.
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Blood
; 142(9): 827-845, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249233
3.
Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.
Blood
; 136(23): 2638-2655, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32603431
4.
Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.
J Allergy Clin Immunol
; 145(5): 1452-1463, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31887391
5.
Rheumatological manifestations in inborn errors of immunity.
Pediatr Res
; 87(2): 293-299, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31581173
6.
Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.
Pediatr Allergy Immunol
; 31(5): 515-527, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108967
7.
Outcome of treosulfan-based reduced-toxicity conditioning regimens for HSCT in high-risk patients with primary immune deficiencies.
Pediatr Transplant
; 22(7): e13266, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992714
8.
Multiple Presentations of LRBA Deficiency: a Single-Center Experience.
J Clin Immunol
; 37(8): 790-800, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28956255
9.
Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.
Haematologica
; 105(10): e488, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33054089
10.
AutoCore: A network-based definition of the core module of human autoimmunity and autoinflammation.
Sci Adv
; 9(35): eadg6375, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37656781
11.
Clinical Features and Outcomes of 23 Patients with Wiskott-Aldrich Syndrome: A Single-Center Experience
Turk J Haematol
; 37(4): 271-281, 2020 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32812413
12.
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses.
J Exp Med
; 216(9): 1986-1998, 2019 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31235509