Detalhe da pesquisa
1.
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Nat Immunol
; 22(2): 128-139, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398182
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.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
J Allergy Clin Immunol
; 152(6): 1634-1645, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595759
4.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507632
5.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
J Clin Immunol
; 44(1): 26, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129713
6.
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
J Clin Immunol
; 42(5): 1036-1050, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451701
7.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028801
8.
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Clin Exp Immunol
; 209(1): 83-89, 2022 07 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511492
9.
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.
Allergy
; 77(3): 1004-1019, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34287962
10.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Allergy
; 77(10): 3108-3123, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491430
11.
A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.
Clin Immunol
; 223: 108645, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33301882
12.
Stepwise Reversal of Immune Dysregulation Due to STAT1 Gain-of-Function Mutation Following Ruxolitinib Bridge Therapy and Transplantation.
J Clin Immunol
; 41(4): 769-779, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33475942
13.
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
14.
Malignancy and lymphoid proliferation in primary immune deficiencies; hard to define, hard to treat.
Pediatr Blood Cancer
; 67(2): e28091, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736244
15.
Immune system defects in DiGeorge syndrome and association with clinical course.
Scand J Immunol
; 90(5): e12809, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31322747
16.
Correction to: Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
J Clin Immunol
; 43(5): 1032, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905459
17.
A novel gain-of-function mutation in STAT5B is associated with treatment-resistant severe atopic dermatitis.
Clin Exp Allergy
; 52(7): 907-910, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35426955
18.
A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Questions.
Pediatr Nephrol
; 37(11): 2615-2616, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445364
19.
A case of chronic kidney disease with pulmonary hypertension, hyperuricemia, immunodeficiency and other extrarenal findings: Answers.
Pediatr Nephrol
; 37(11): 2617-2619, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35445976
20.
A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells.
J Clin Immunol
; 41(1): 251-255, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33040278