Detalhe da pesquisa
1.
Biallelic NFATC1 mutations cause an inborn error of immunity with impaired CD8+ T-cell function and perturbed glycolysis.
Blood
; 142(9): 827-845, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249233
2.
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
3.
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
J Allergy Clin Immunol
; 152(1): 182-194.e7, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36758835
4.
Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiency.
J Allergy Clin Immunol
; 152(6): 1634-1645, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37595759
5.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol
; 255: 109757, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37689091
6.
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
J Clin Immunol
; 42(5): 1036-1050, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35451701
7.
Comparing the levels of CTLA-4-dependent biological defects in patients with LRBA deficiency and CTLA-4 insufficiency.
Allergy
; 77(10): 3108-3123, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35491430
8.
Corrigendum to "Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients" [Clinical Immunology 255 (2023) 109757].
Clin Immunol
; 256: 109799, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37845128
9.
Correction to: Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
J Clin Immunol
; 43(5): 1032, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36905459
10.
A boy with a novel homozygous ZAP70 mutation presenting with a dermatological phenotype and postnatal decrease in CD8+ T cells.
Pediatr Allergy Immunol
; 33(3): e13756, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35338726