Detalhe da pesquisa
1.
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Br J Haematol;
2024 May 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38811201
2.
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
3.
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
4.
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
5.
Characterization of peripheral blood T follicular helper (TFH) cells in patients with type 1 Gaucher disease and carriers.
Blood Cells Mol Dis;
100: 102728, 2023 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36738539
6.
The Beneficial Clinical Effects of Teriflunomide in Experimental Autoimmune Myasthenia Gravis and the Investigation of the Possible Immunological Mechanisms.
Cell Mol Neurobiol;
43(5): 2071-2087, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36219379
7.
Synthesis and Comprehensive in Vivo Activity Profiling of Olean-12-en-28-ol, 3ß-Pentacosanoate in Experimental Autoimmune Encephalomyelitis: A Natural Remyelinating and Anti-Inflammatory Agent.
J Nat Prod;
86(1): 103-118, 2023 01 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36598820
8.
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
9.
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
10.
Circulating fibrocyte level in children with cystic fibrosis.
Pediatr Int;
64(1): e15058, 2022 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34779084
11.
Temporal overexpression of IL-22 and Reg3γ differentially impacts the severity of experimental autoimmune encephalomyelitis.
Immunology;
164(1): 73-89, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33876425
12.
Common Variable Immunodeficiency, Autoimmune Hemolytic Anemia, and Pancytopenia Associated With a Defect in IKAROS.
J Pediatr Hematol Oncol;
43(3): e351-e357, 2021 04 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33122583
13.
ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients.
Allergy;
75(4): 921-932, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31596517
14.
Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th17, Treg, and Innate Lymphoid Cells.
J Clin Immunol;
39(4): 391-400, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31025232
15.
Correction to: A Novel Biallelic LCK Variant Resulting in Profound T-Cell Immune Deficiency and Review of the Literature.
J Clin Immunol;
44(1): 41, 2024 Jan 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38225415
16.
A case of autoimmune lymphoproliferative syndrome with a novel de novo FAS variant.
Pediatr Hematol Oncol;
41(4): 301-309, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38047450
17.
A novel missense mutation outside the DNAJ domain of DNAJC21 is associated with Shwachman-Diamond syndrome.
Br J Haematol;
197(6): e88-e93, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35298850
18.
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
19.
A rare cause of membranoproliferative patterns of injury in siblings with steroid-resistant nephrotic syndrome: Questions.
Pediatr Nephrol;
36(12): 4027-4028, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34185134
20.
A rare cause of membranoproliferative patterns of injury in siblings with steroid-resistant nephrotic syndrome: Answers.
Pediatr Nephrol;
36(12): 4029-4032, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34185135