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1.
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib.
J Clin Immunol
; 44(4): 85, 2024 Apr 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-38578354
2.
Joubert syndrome-derived induced pluripotent stem cells show altered neuronal differentiation in vitro.
Cell Tissue Res
; 396(2): 255-267, 2024 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-38502237
3.
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Nat Immunol
; 13(12): 1178-86, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-23104095
4.
Rituximab Monotherapy Is Effective as First-Line Treatment for Granulomatous Lymphocytic Interstitial Lung Disease (GLILD) in CVID Patients.
J Clin Immunol
; 43(8): 2091-2103, 2023 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-37755605
5.
Ischaemic cerebral small vessel disease caused by adenosine deaminase 2 deficiency syndrome.
Eur J Neurol
; 30(4): 1148-1151, 2023 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-36692946
6.
Pathological 25 kDa C-Terminal Fragments of TDP-43 Are Present in Lymphoblastoid Cell Lines and Extracellular Vesicles from Patients Affected by Frontotemporal Lobar Degeneration and Neuronal Ceroidolipofuscinosis Carrying a GRN Mutation.
Int J Mol Sci
; 23(22)2022 Nov 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-36430231
7.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
J Allergy Clin Immunol
; 146(5): 1165-1179.e11, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32311393
8.
Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality.
J Allergy Clin Immunol
; 146(2): 429-437, 2020 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-32169379
9.
Paediatric MAS/HLH caused by a novel monoallelic activating mutation in p110δ.
Clin Immunol
; 219: 108543, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32681977
10.
Human inborn errors of immunity caused by defects of receptor and proteins of cellular membrane.
Minerva Pediatr
; 72(5): 393-407, 2020 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-32960006
11.
Autonomous role of Wiskott-Aldrich syndrome platelet deficiency in inducing autoimmunity and inflammation.
J Allergy Clin Immunol
; 142(4): 1272-1284, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29421274
12.
Long term outcome of eight patients with type 1 Leukocyte Adhesion Deficiency (LAD-1): Not only infections, but high risk of autoimmune complications.
Clin Immunol
; 191: 75-80, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29548898
13.
Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.
Clin Immunol
; 195: 59-66, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30053428
14.
Modeling altered T-cell development with induced pluripotent stem cells from patients with RAG1-dependent immune deficiencies.
Blood
; 128(6): 783-93, 2016 08 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-27301863
15.
Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells.
Proc Natl Acad Sci U S A
; 111(24): 8889-94, 2014 Jun 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-24889605
16.
Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia.
Hum Mol Genet
; 23(2): 368-82, 2014 Jan 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24009312
17.
IFN-α levels in ruxolitinib-treatead Aicardi-Goutières patient during SARS-CoV-2 infection: A case report.
Clin Immunol
; 227: 108743, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33930555
18.
Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency.
J Allergy Clin Immunol
; 136(1): 140-150.e7, 2015 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-25917813
19.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30822429
20.
A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.
J Allergy Clin Immunol
; 133(4): 1099-108, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24290284