Detalhe da pesquisa
1.
Clinical and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function.
Pediatr Blood Cancer
; 70(12): e30671, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37712719
2.
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Clin Immunol
; 219: 108543, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32681977
3.
Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.
Clin Immunol
; 220: 108589, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32927079
4.
Longitudinal Characterization of Immune Response in a Cohort of Children Hospitalized with Multisystem Inflammatory Syndrome.
Children (Basel)
; 10(6)2023 Jun 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37371300
5.
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients.
J Clin Med
; 9(10)2020 Oct 17.
Artigo
Inglês
| MEDLINE | ID: mdl-33080915