Detalhe da pesquisa
1.
Human genetic defects in SRP19 and SRPRA cause severe congenital neutropenia with distinctive proteome changes.
Blood
; 141(6): 645-658, 2023 02 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36223592
2.
B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.
Immunogenetics
; 76(3): 189-202, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38683392
3.
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke.
Genet Med
; 26(2): 101013, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924258
4.
Human MD2 deficiency-an inborn error of immunity with pleiotropic features.
J Allergy Clin Immunol
; 151(3): 791-796.e7, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462957
5.
C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Clin Immunol
; 256: 109777, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37741518
6.
CLEC12A and CD33 coexpression as a preferential target for pediatric AML combinatorial immunotherapy.
Blood
; 137(8): 1037-1049, 2021 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33094319
7.
First detected geographical cluster of BoDV-1 encephalitis from same small village in two children: therapeutic considerations and epidemiological implications.
Infection
; 51(5): 1383-1398, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821024
8.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A
; 116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30591564
9.
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
Clin Immunol
; 229: 108779, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34116213
10.
Lineage-Specific Chimerism and Outcome After Hematopoietic Stem Cell Transplantation for DOCK8 Deficiency.
J Clin Immunol
; 41(7): 1536-1548, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34080085
11.
FARS1-related disorders caused by bi-allelic mutations in cytosolic phenylalanyl-tRNA synthetase genes: Look beyond the lungs!
Clin Genet
; 99(6): 789-801, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33598926
12.
CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis.
Blood
; 134(18): 1510-1516, 2019 10 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31501153
13.
SmartPhase: Accurate and fast phasing of heterozygous variant pairs for genetic diagnosis of rare diseases.
PLoS Comput Biol
; 16(2): e1007613, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032351
14.
Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).
Immunol Invest
; 50(4): 445-459, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32633164
15.
Refractory and Fatal Presentation of Severe Autoimmune Hemolytic Anemia in a Child With the DNASE1L3 Mutation Complicated With an Additional DOCK8 Variant.
J Pediatr Hematol Oncol
; 43(3): e452-e456, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32205782
16.
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
17.
New Findings of Immunodysregulation, Polyendocrinopathy, and Enteropathy X-linked Syndrome (IPEX); Granulomas in Lung and Duodenum.
Pediatr Dev Pathol
; 24(3): 252-257, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33683986
18.
Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition.
Mol Cell Proteomics
; 18(4): 760-772, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30630937
19.
A novel VPS13B mutation in Cohen syndrome: a case report and review of literature.
BMC Med Genet
; 21(1): 140, 2020 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32605629
20.
A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma.
J Pediatr Hematol Oncol
; 42(2): 156-159, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31033788