Detalhe da pesquisa
1.
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation.
Cell
; 168(6): 1053-1064.e15, 2017 03 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283061
2.
Outcomes of HLA-mismatched HSCT with TCRαß/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.
Blood
; 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38669631
3.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
4.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
5.
Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.
Eur J Haematol
; 2024 Mar 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-38556258
6.
Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment.
Genes Immun
; 24(1): 12-20, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36517554
7.
Defective Treg generation and increased type 3 immune response in leukocyte adhesion deficiency 1.
Clin Immunol
; 253: 109691, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433423
8.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
9.
A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol
; 44(1): 1, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38100037
10.
Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia.
Blood
; 137(22): 3127-3136, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33512441
11.
Aceruloplasminemia presenting with microcytic anemia in a Turkish boy due to a novel pathogenic variant.
Pediatr Hematol Oncol
; 40(7): 673-681, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36308763
12.
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
13.
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
14.
Therapeutic effects of vitamin D and IL-22 on methotrexate-induced mucositis in mice.
Anticancer Drugs
; 33(1): 11-18, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34348356
15.
The Mutation of CD27 Deficiency Presented With Familial Hodgkin Lymphoma and a Review of the Literature.
J Pediatr Hematol Oncol
; 44(4): e833-e843, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35398861
16.
A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.
J Pediatr Hematol Oncol
; 44(1): e62-e67, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33560082
17.
Central Nervous System Fungal Infections in Children With Leukemia and Undergoing Hematopoietic Stem Cell Transplantation: A Retrospective Multicenter Study.
J Pediatr Hematol Oncol
; 44(8): e1039-e1045, 2022 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036521
18.
Assessment of extracorporeal photopheresis related cell damage.
Transfus Apher Sci
; 61(6): 103472, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35637126
19.
Social exclusion and behavior problems in adolescents with cancer and healthy counterparts.
J Pediatr Nurs
; 64: e95-e101, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998654
20.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
J Clin Immunol
; 41(8): 1804-1838, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34390440