Detalhe da pesquisa
1.
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Nat Immunol
; 23(8): 1256-1272, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-35902638
2.
Early-onset pulmonary and cutaneous vasculitis driven by constitutively active SRC-family kinase HCK.
J Allergy Clin Immunol
; 149(4): 1464-1472.e3, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-34536415
3.
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
Clin Infect Dis
; 74(1): 136-139, 2022 01 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33252644
4.
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
J Clin Immunol
; 42(5): 1071-1082, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35486339
5.
TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.
Am J Hematol
; 97(3): 338-351, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34981838
6.
Transmembrane adaptor protein WBP1L regulates CXCR4 signalling and murine haematopoiesis.
J Cell Mol Med
; 24(2): 1980-1992, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31845480
7.
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.
J Clin Immunol
; 38(5): 589-601, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29934865
8.
High-resolution Antibody Array Analysis of Childhood Acute Leukemia Cells.
Mol Cell Proteomics
; 15(4): 1246-61, 2016 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-26785729
9.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Blood
; 135(26): 2427-2431, 2020 06 25.
Artigo
Inglês
| MEDLINE | ID: mdl-32276275
10.
Lymphoproliferation, immunodeficiency and early-onset inflammatory bowel disease associated with a novel mutation in Caspase 8.
Haematologica
; 104(1): e32-e34, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30337362
11.
Clinical Outcomes, Immunogenicity, and Safety of BNT162b2 Vaccine in Primary Antibody Deficiency.
J Allergy Clin Immunol Pract
; 11(1): 306-314.e2, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36379409
12.
An automated analysis of highly complex flow cytometry-based proteomic data.
Cytometry A
; 81(2): 120-9, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22213549
13.
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells marked by CD24 expression.
J Immunol
; 185(11): 6431-8, 2010 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-21041728
14.
Multiplexed immuno-precipitation with 1725 commercially available antibodies to cellular proteins.
Proteomics
; 11(23): 4578-82, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21956872
15.
Natural Course of Activated Phosphoinositide 3-Kinase Delta Syndrome in Childhood and Adolescence.
Front Pediatr
; 9: 697706, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34350147
16.
Somatic Mutations in Oncogenes Are in Chronic Myeloid Leukemia Acquired De Novo via Deregulated Base-Excision Repair and Alternative Non-Homologous End Joining.
Front Oncol
; 11: 744373, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34616685
17.
Novel XIAP mutation causing enhanced spontaneous apoptosis and disturbed NOD2 signalling in a patient with atypical adult-onset Crohn's disease.
Cell Death Dis
; 11(6): 430, 2020 06 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32514016
18.
EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children.
Front Immunol
; 11: 371, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32265901
19.
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Front Immunol
; 10: 2194, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31620126
20.
Optimization and testing of dried antibody tube: The EuroFlow LST and PIDOT tubes as examples.
J Immunol Methods
; 475: 112287, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28341440