Search details
1.
Genetics of Pediatric Immune-Mediated Diseases and Human Immunity.
Annu Rev Immunol
; 39: 227-249, 2021 04 26.
Article
in English
| MEDLINE | ID: mdl-33534603
2.
Congenital iRHOM2 deficiency causes ADAM17 dysfunction and environmentally directed immunodysregulatory disease.
Nat Immunol
; 23(1): 75-85, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34937930
3.
A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.
Nat Immunol
; 22(7): 893-903, 2021 07.
Article
in English
| MEDLINE | ID: mdl-34155405
4.
Chromothriptic cure of WHIM syndrome.
Cell
; 160(4): 686-699, 2015 Feb 12.
Article
in English
| MEDLINE | ID: mdl-25662009
5.
Gene therapy using haematopoietic stem and progenitor cells.
Nat Rev Genet
; 22(4): 216-234, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33303992
6.
Reappraisal of Idiopathic CD4 Lymphocytopenia at 30 Years.
N Engl J Med
; 388(18): 1680-1691, 2023 May 04.
Article
in English
| MEDLINE | ID: mdl-37133586
7.
Systematic analysis of immunodeficiency.
Nat Immunol
; 15(12): 1097-8, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25396343
8.
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.
Nat Immunol
; 15(12): 1134-42, 2014 Dec.
Article
in English
| MEDLINE | ID: mdl-25344726
9.
Clinical and functional spectrum of RAC2-related immunodeficiency.
Blood
; 143(15): 1476-1487, 2024 Apr 11.
Article
in English
| MEDLINE | ID: mdl-38194689
10.
DNMT3B PWWP mutations cause hypermethylation of heterochromatin.
EMBO Rep
; 25(3): 1130-1155, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38291337
11.
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
; 583(7814): 90-95, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32499645
12.
Novel compound heterozygous mutations in UHRF1 are associated with atypical immunodeficiency, centromeric instability and facial anomalies syndrome with distinctive genome-wide DNA hypomethylation.
Hum Mol Genet
; 32(9): 1439-1456, 2023 04 20.
Article
in English
| MEDLINE | ID: mdl-36458887
13.
Sequential Stem Cell-Kidney Transplantation in Schimke Immuno-osseous Dysplasia.
N Engl J Med
; 386(24): 2295-2302, 2022 06 16.
Article
in English
| MEDLINE | ID: mdl-35704481
14.
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.
Article
in English
| MEDLINE | ID: mdl-35588454
15.
Proceedings from the inaugural Artificial Intelligence in Primary Immune Deficiencies (AIPID) conference.
J Allergy Clin Immunol
; 153(3): 637-642, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38224784
16.
Two cases of pediatric primary immunodeficiency caused by a familial moesin(MSN)gene mutation.
Clin Immunol
; 258: 109858, 2024 Jan.
Article
in English
| MEDLINE | ID: mdl-38052292
17.
CXCR4 WHIM syndrome is a cancer predisposition condition for virus-induced malignancies.
Br J Haematol
; 204(4): 1383-1392, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38442908
18.
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.
J Clin Immunol
; 44(2): 55, 2024 Jan 25.
Article
in English
| MEDLINE | ID: mdl-38270687
19.
Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
Clin Exp Immunol
; 215(2): 160-176, 2024 Feb 07.
Article
in English
| MEDLINE | ID: mdl-37724703
20.
VIPPID: a gene-specific single nucleotide variant pathogenicity prediction tool for primary immunodeficiency diseases.
Brief Bioinform
; 23(5)2022 09 20.
Article
in English
| MEDLINE | ID: mdl-35598327