Detalhe da pesquisa
1.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(2): 282-293, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38172257
2.
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Nat Immunol
; 23(1): 75-85, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34937930
3.
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Nat Immunol
; 22(2): 128-139, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33398182
4.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(4): 717, 2024 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-38347083
5.
Evaluating the efficacy and safety of pozelimab in patients with CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and protein-losing enteropathy disease: an open-label phase 2 and 3 study.
Lancet
; 403(10427): 645-656, 2024 Feb 17.
Artigo
Inglês
| MEDLINE | ID: mdl-38278170
6.
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
Inglês
| MEDLINE | ID: mdl-37249233
7.
Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome.
Blood
; 142(15): 1281-1296, 2023 10 12.
Artigo
Inglês
| MEDLINE | ID: mdl-37478401
8.
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
Inglês
| MEDLINE | ID: mdl-38578569
9.
The association of milk and multiple food avoidance with growth parameters in infants and children.
Ann Allergy Asthma Immunol
; 132(6): 745-751.e2, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38447665
10.
Homozygous IL37 mutation associated with infantile inflammatory bowel disease.
Proc Natl Acad Sci U S A
; 118(10)2021 03 09.
Artigo
Inglês
| MEDLINE | ID: mdl-33674380
11.
Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6.
J Allergy Clin Immunol
; 152(1): 182-194.e7, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36758835
12.
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
J Allergy Clin Immunol
; 152(4): 984-996.e10, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37390899
13.
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.
Clin Immunol
; 255: 109757, 2023 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37689091
14.
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
J Clin Immunol
; 43(8): 1882-1890, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37507632
15.
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
J Clin Immunol
; 44(1): 26, 2023 12 22.
Artigo
Inglês
| MEDLINE | ID: mdl-38129713
16.
Clinical, immunological, molecular and therapeutic findings in monogenic immune dysregulation diseases: Middle East and North Africa registry.
Clin Immunol
; 244: 109131, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36179983
17.
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
J Clin Immunol
; 42(5): 1036-1050, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35451701
18.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35028801
19.
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency.
J Clin Immunol
; 42(3): 634-652, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35079916
20.
Increased radiosensitivity and impaired DNA repair in patients with STAT3-LOF and ZNF341 deficiency, potentially contributing to malignant transformations.
Clin Exp Immunol
; 209(1): 83-89, 2022 07 22.
Artigo
Inglês
| MEDLINE | ID: mdl-35511492