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1.
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.
Nat Immunol
; 19(9): 973-985, 2018 09.
Article
in English
| MEDLINE | ID: mdl-30127434
2.
The Genetic Landscape of Familial Pulmonary Fibrosis.
Am J Respir Crit Care Med
; 207(10): 1345-1357, 2023 05 15.
Article
in English
| MEDLINE | ID: mdl-36622818
3.
Inherited human ezrin deficiency impairs adaptive immunity.
J Allergy Clin Immunol
; 152(4): 997-1009.e11, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37301410
4.
Inherited Human BCL10 Deficiencies.
J Clin Immunol
; 44(1): 13, 2023 12 22.
Article
in English
| MEDLINE | ID: mdl-38129623
5.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 27(22): 3919-3935, 2018 11 15.
Article
in English
| MEDLINE | ID: mdl-31222290
6.
Human BCL10 Deficiency due to Homozygosity for a Rare Allele.
J Clin Immunol
; 40(2): 388-398, 2020 02.
Article
in English
| MEDLINE | ID: mdl-32008135
7.
Mendelian susceptibility to mycobacterial disease: 2014-2018 update.
Immunol Cell Biol
; 97(4): 360-367, 2019 04.
Article
in English
| MEDLINE | ID: mdl-30264912
8.
Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.
Crit Rev Clin Lab Sci
; 55(3): 184-204, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29502462
9.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A
; 112(44): 13615-20, 2015 Nov 03.
Article
in English
| MEDLINE | ID: mdl-26483451
10.
Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity.
J Infect Dis
; 216(12): 1623-1634, 2017 12 19.
Article
in English
| MEDLINE | ID: mdl-29029192
11.
A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.
Hum Mol Genet
; 28(3): 524, 2019 02 01.
Article
in English
| MEDLINE | ID: mdl-30329057
12.
Actin polymerisation after FCγR stimulation of human fibroblasts is BCL10 independent.
Clin Immunol
; 163: 120-2, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26774590
13.
Gain-of-function mutation in PIK3R1 in a patient with a narrow clinical phenotype of respiratory infections.
Clin Immunol
; 173: 117-120, 2016 Dec.
Article
in English
| MEDLINE | ID: mdl-27693481
14.
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphoma-translocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity.
J Allergy Clin Immunol
; 136(5): 1139-49, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26277595
15.
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
Blood
; 122(14): 2390-401, 2013 Oct 03.
Article
in English
| MEDLINE | ID: mdl-23963039
16.
Double-strand break repair through homologous recombination in autosomal-recessive BCL10 deficiency.
J Allergy Clin Immunol
; 143(5): 1931-1934.e1, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30660642
17.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
J Clin Immunol
; 34(8): 904-9, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25135595
18.
Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds.
J Clin Immunol
; 34(4): 452-8, 2014 May.
Article
in English
| MEDLINE | ID: mdl-24596025
19.
The mutation significance cutoff: gene-level thresholds for variant predictions.
Nat Methods
; 13(2): 109-10, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26820543
20.
Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk.
Proc Natl Acad Sci U S A
; 108(21): 8761-6, 2011 May 24.
Article
in English
| MEDLINE | ID: mdl-21555552