Detalhe da pesquisa
1.
A distinct human cell type expressing MHCII and RORγt with dual characteristics of dendritic cells and type 3 innate lymphoid cells.
Proc Natl Acad Sci U S A
; 120(52): e2318710120, 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38109523
2.
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
J Clin Immunol
; 44(4): 85, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578354
3.
Sustained post-rituximab B-cell depletion is common in ANCA-associated vasculitis and is affected by sex and renal function.
Nephrol Dial Transplant
; 39(4): 683-693, 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37673675
4.
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients.
J Clin Immunol
; 43(8): 2091-2103, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37755605
5.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2115-2125, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37770806
6.
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency.
Blood
; 137(4): 493-499, 2021 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32905580
7.
Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Pediatr Blood Cancer
; 70(12): e30671, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37712719
8.
Lymphocyte alterations in patients with Common Variable Immunodeficiency (CVID) and autoimmune manifestations.
Clin Immunol
; 241: 109077, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35843508
9.
Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound Not Age-Related Lymphocyte Alterations.
J Clin Immunol
; 42(2): 365-374, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34802108
10.
Identical EP300 variant leading to Rubinstein-Taybi syndrome with different clinical and immunologic phenotype.
Am J Med Genet A
; 188(7): 2129-2134, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35266289
11.
Immune response in children with COVID-19 is characterized by lower levels of T-cell activation than infected adults.
Eur J Immunol
; 50(9): 1412-1414, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32592406
12.
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Clin Immunol
; 219: 108543, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681977
13.
Two X-linked agammaglobulinemia patients develop pneumonia as COVID-19 manifestation but recover.
Pediatr Allergy Immunol
; 31(5): 565-569, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32319118
14.
Early B cell developmental impairment with progressive B cell deficiency in NFKB2 mutated CVID disease without autoimmunity.
Clin Immunol
; 205: 153-155, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30500415
15.
A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1).
Clin Immunol
; 200: 31-34, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30639166
16.
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.
Clin Immunol
; 191: 75-80, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29548898
17.
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
J Clin Immunol
; 43(8): 2126, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37921915
18.
Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.
Blood
; 127(26): 3382-6, 2016 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-27207797
19.
Clinical and immunological analysis of a large kindred affected by autoimmune lymphoproliferative syndrome (ALPS) due to a novel TNFRSF6 mutation displaying age dependent disease activity.
Clin Immunol
; 245: 109136, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36184054
20.
Reduction of CRKL expression in patients with partial DiGeorge syndrome is associated with impairment of T-cell functions.
J Allergy Clin Immunol
; 138(1): 229-240.e3, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26875746