Detalhe da pesquisa
1.
Unbiased assessment of genome integrity and purging of adverse outcomes at the target locus upon editing of CD4+ T-cells for the treatment of Hyper IgM1.
EMBO J
; 42(23): e114188, 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37916874
2.
Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients.
Proc Natl Acad Sci U S A
; 119(21): e2119483119, 2022 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35588454
3.
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
J Allergy Clin Immunol
; 153(1): 275-286.e18, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37935260
4.
The lack of either IRF9, or STAT2, has surprisingly little effect on human natural killer cell development and function.
Immunology
; 172(3): 440-450, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38514903
5.
A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.
Clin Chem
; 70(5): 737-746, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531023
6.
Revisiting autoimmune lymphoproliferative syndrome caused by Fas ligand mutations.
J Allergy Clin Immunol
; 151(5): 1391-1401.e7, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36621650
7.
A MultiCenter, OpenLabel, SingleArm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency.
J Clin Immunol
; 42(3): 500-511, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34973143
8.
Impact of cytomegalovirus infection prior to hematopoietic stem cell transplantation in children with inborn errors of immunity.
Eur J Pediatr
; 181(11): 3889-3898, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36102997
9.
Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
J Allergy Clin Immunol
; 147(2): 520-531, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32980424
10.
High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
J Med Genet
; 57(4): 269-273, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494577
11.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
J Allergy Clin Immunol
; 146(4): 901-911, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32278790
12.
Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.
Clin Immunol
; 201: 30-34, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30776520
13.
Primary immunodeficiency diseases in lung disease: warning signs, diagnosis and management.
Respir Res
; 19(1): 219, 2018 11 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419907
14.
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation.
J Allergy Clin Immunol
; 139(4): 1282-1292, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27697500
15.
Correction to: A Multi-center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency.
J Clin Immunol
; 42(3): 512-513, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35174440
16.
Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville.
Pediatr Allergy Immunol
; 27(1): 70-7, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26498110
17.
Management of persistent Cryptosporidium spp. infestation in a child with acute myeloid leukemia.
Pediatr Blood Cancer
; 67(11): e28470, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776427
18.
[Recommendations for the diagnosis, treatment and follow-up of the pregnant woman and child with Chagas disease. Sociedad Española de Infectología Pediátrica. Sociedad de Enfermedades Infecciosas y Microbiología Clínica. Sociedad Española de Ginecología y Obstetricia]. / Recomendaciones para el diagnóstico, seguimiento y tratamiento de la embarazada y del niño con enfermedad de Chagas.
Enferm Infecc Microbiol Clin
; 31(8): 535-42, 2013 Oct.
Artigo
em Espanhol
| MEDLINE | ID: mdl-23374862
19.
Scalable GMP-compliant gene correction of CD4+ T cells with IDLV template functionally validated in vitro and in vivo.
Mol Ther Methods Clin Dev
; 30: 546-557, 2023 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37693944
20.
Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes.
iScience
; 26(6): 106818, 2023 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37235056