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.
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
3.
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
4.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507632
5.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
J Clin Immunol
; 44(1): 26, 2023 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38129713
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.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35028801
8.
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
J Clin Immunol
; 42(3): 634-652, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35079916
9.
Adverse COVID-19 outcomes in immune deficiencies: Inequality exists between subclasses.
Allergy
; 77(1): 282-295, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34314546
10.
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
11.
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
12.
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
13.
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
14.
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
15.
Lymphopenia with Low T and NK Cells in a Patient with USB1 Mutation, Rare Findings in Clericuzio-Type Poikiloderma with Neutropenia.
J Clin Immunol
; 41(5): 1106-1111, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624217
16.
Management of Systemic Hypersensitivity Reactions to Gonadotropin-Releasing Hormone Analogues during Treatment of Central Precocious Puberty.
Horm Res Paediatr
; 93(1): 66-72, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31972562
17.
Clinical features and accompanying findings of Pseudo-Bartter Syndrome in cystic fibrosis.
Pediatr Pulmonol
; 55(8): 2011-2016, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32364312