Detalhe da pesquisa
1.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
J Clin Immunol
; 44(4): 94, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578569
2.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
3.
Alterations in insulin-like growth factor system in spinal muscular atrophy.
Muscle Nerve
; 66(5): 631-638, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050898
4.
Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.
J Clin Immunol
; 41(7): 1563-1573, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34114123
5.
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
6.
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation.
J Clin Immunol
; 44(3): 74, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38427060
7.
Selective loss of function variants in IL6ST cause Hyper-IgE syndrome with distinct impairments of T-cell phenotype and function.
Haematologica
; 104(3): 609-621, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30309848
8.
Evaluation of children with chronic cough including obstructive sleep apnea: a single-center experience.
Eur J Pediatr
; 178(2): 189-197, 2019 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-30382346
9.
Mutations affecting the actin regulator WD repeat-containing protein 1 lead to aberrant lymphoid immunity.
J Allergy Clin Immunol
; 142(5): 1589-1604.e11, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29751004
10.
Evaluation of thymopoiesis in healthy Turkish children aged 0-6 years.
Turk J Pediatr
; 65(1): 73-80, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36866987
11.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Blood Adv
; 6(7): 2444-2451, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34920454
12.
Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.
Sci Immunol
; 6(65): eabe3981, 2021 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34826259
13.
Combined immunodeficiency and Epstein-Barr virus-induced B cell malignancy in humans with inherited CD70 deficiency.
J Exp Med
; 214(1): 91-106, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28011864