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.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
J Clin Immunol
; 44(4): 94, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578569
4.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
5.
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
6.
Alterations in insulin-like growth factor system in spinal muscular atrophy.
Muscle Nerve
; 66(5): 631-638, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050898
7.
Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.
J Clin Immunol
; 41(7): 1563-1573, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114123
8.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol
; 41(6): 1272-1290, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929673
9.
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
10.
Rheumatological manifestations in inborn errors of immunity.
Pediatr Res
; 87(2): 293-299, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31581173
11.
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
12.
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation.
J Clin Immunol
; 44(3): 74, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427060
13.
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Haematologica
; 104(3): 609-621, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30309848
14.
Allogeneic hematopoietic stem cell and liver transplantation in a young girl with dedicator of cytokinesis 8 protein deficiency.
Pediatr Transplant
; 23(7): e13545, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31297914
15.
Evaluation of children with chronic cough including obstructive sleep apnea: a single-center experience.
Eur J Pediatr
; 178(2): 189-197, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382346
16.
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
J Allergy Clin Immunol
; 142(5): 1589-1604.e11, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751004
17.
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
18.
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
19.
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
20.
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