Detalhe da pesquisa
1.
RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics.
Nat Immunol
; 17(12): 1352-1360, 2016 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-27776107
2.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res
; 52(D1): D1333-D1346, 2024 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37953324
3.
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
4.
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion.
J Clin Immunol
; 44(5): 108, 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38676845
5.
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion.
J Clin Immunol
; 44(4): 94, 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578569
6.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Clin Exp Immunol
; 215(2): 160-176, 2024 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37724703
7.
Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.
Mol Biol Rep
; 51(1): 736, 2024 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38874671
8.
Phosphomevalonate kinase deficiency expands the genetic spectrum of systemic autoinflammatory diseases.
J Allergy Clin Immunol
; 152(4): 1025-1031.e2, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37364720
9.
Evans syndrome caused by a deleterious mutation affecting the adaptor protein SASH3.
Br J Haematol
; 203(4): 678-683, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646304
10.
Human Autosomal Recessive DNA Polymerase Delta 3 Deficiency Presenting as Omenn Syndrome.
J Clin Immunol
; 44(1): 2, 2023 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38099988
11.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32845957
12.
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Blood
; 137(15): 2033-2045, 2021 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513601
13.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991581
14.
Early-onset inflammatory bowel disease as a model disease to identify key regulators of immune homeostasis mechanisms.
Immunol Rev
; 287(1): 162-185, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30565237
15.
Human repair-related Schwann cells adopt functions of antigen-presenting cells in vitro.
Glia
; 70(12): 2361-2377, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36054432
16.
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
17.
Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review.
Scand J Immunol
; 95(4): e13136, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-34964150
18.
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
19.
Adenosine Deaminase Type II Deficiency: Severe Chronic Neutropenia, Lymphoid Infiltration in Bone Marrow, and Inflammatory Features.
Immunol Invest
; 51(3): 558-566, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33705245
20.
[Chronic or severe enteropathy and immunodeficiency: be prepared for a rara avis]. / Chronische oder schwere Darmerkrankung und Immundefekt: Manchmal ist es doch ein Kolibri.
Z Gastroenterol
; 60(11): 1668-1677, 2022 Nov.
Artigo
em Alemão
| MEDLINE | ID: mdl-35297030