Detalhe da pesquisa
1.
Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.
J Med Genet
; 60(11): 1092-1104, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37316189
2.
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
Am J Hum Genet
; 102(6): 1126-1142, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805043
3.
Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.
Blood
; 132(1): 89-100, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29632024
4.
HSCT corrects primary immunodeficiency and immune dysregulation in patients with POMP-related autoinflammatory disease.
Blood
; 138(19): 1896-1901, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34019630
5.
ABO-incompatible deceased donor pediatric liver transplantation: Novel titer-based management protocol and outcomes.
Pediatr Transplant
; 22(7): e13263, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30070010
6.
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
J Allergy Clin Immunol
; 139(1): 232-245, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27577878
7.
Immunologic Profiling of Human Metapneumovirus for the Development of Targeted Immunotherapy.
J Infect Dis
; 216(6): 678-687, 2017 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28934427
8.
Adoptive immunotherapy for primary immunodeficiency disorders with virus-specific T lymphocytes.
J Allergy Clin Immunol
; 137(5): 1498-1505.e1, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26920464
9.
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.
J Allergy Clin Immunol
; 138(4): 1142-1151.e2, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27484032
10.
Combined liver and hematopoietic stem cell transplantation in patients with X-linked hyper-IgM syndrome.
J Allergy Clin Immunol
; 143(5): 1952-1956.e6, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30682461
11.
Atypical infiltrates on endomyocardial biopsy are associated with adverse outcomes in pediatric heart transplantation.
J Heart Lung Transplant
; 42(12): 1743-1752, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37473824
12.
Plasma Metagenomic Sequencing Expedites Diagnosis of Disseminated BCG in an Infant With IKBKB Mutation.
Pediatr Infect Dis J
; 41(5): 430-435, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35067643
13.
Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation.
JPGN Rep
; 3(1): e135, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37168752
14.
Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
J Exp Med
; 218(7)2021 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33951726
15.
Severe cutaneous human papillomavirus infection associated with natural killer cell deficiency following stem cell transplantation for severe combined immunodeficiency.
J Allergy Clin Immunol
; 134(6): 1451-1453.e1, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25159470
16.
Case Report: Secondary Hemophagocytic Lymphohistiocytosis With Disseminated Infection in Chronic Granulomatous Disease-A Serious Cause of Mortality.
Front Immunol
; 11: 581475, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33362767
17.
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.
J Allergy Clin Immunol
; 128(5): 1115-7.e1-3, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21835443
18.
Pediatric Liver Transplantation Across the ABO Blood Group Barrier: Is It an Obstacle in the Modern Era?
J Am Coll Surg
; 222(4): 681-9, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27016995
19.
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Nat Genet
; 47(6): 654-60, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25894502
20.
Use of enteral immunoglobulin in NEMO syndrome for eradication of persistent symptomatic norovirus enteritis.
J Allergy Clin Immunol Pract
; 4(3): 539-541.e1, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26795245