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- Publications
- Influence
The human gene damage index as a gene-level approach to prioritizing exome variants
- Y. Itan, Lei Shang, +23 authors J. Casanova
- Biology, Medicine
- Proceedings of the National Academy of Sciences
- 19 October 2015
Significance The protein-coding exome of a patient with a monogenic disease contains about 20,000 variations, of which only one or two are disease causing. When attempting to select disease-causing… Expand
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
- Q. Zhang, P. Bastard, +126 authors Jean-Laurent Casanova
- Medicine
- Science
- 24 September 2020
The genetics underlying severe COVID-19 The immune system is complex and involves many genes, including those that encode cytokines known as interferons (IFNs). Individuals that lack specific IFNs… Expand
Inherited p40phox deficiency differs from classic chronic granulomatous disease
- A. van de Geer, A. Nieto-Patlán, +56 authors J. Bustamante
- Biology, Medicine
- The Journal of clinical investigation
- 31 August 2018
Biallelic loss-of-function (LOF) mutations of the NCF4 gene, encoding the p40phox subunit of the phagocyte NADPH oxidase, have been described in only 1 patient. We report on 24 p40phox-deficient… Expand
Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation.
- Marcela Moncada-Velez, Ruben Martinez-Barricarte, +22 authors S. Boisson-Dupuis
- Biology, Medicine
- Blood
- 3 October 2013
We report a molecular study of the two known patients with autosomal recessive, partial interferon-γ receptor (IFN-γR)2 deficiency (homozygous for mutations R114C and G227R), and three novel,… Expand
Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance
- Carmen Oleaga-Quintas, E. B. de Oliveira-Júnior, +57 authors J. Bustamante
- Medicine
- Journal of clinical immunology
- 8 January 2021
Purpose Germline heterozygous mutations of GATA2 underlie a variety of hematological and clinical phenotypes. The genetic, immunological, and clinical features of GATA2-deficient patients with… Expand
Exome sequencing reveals gain-of-function mutations in STAT1 conferring predisposition to chronic mucocutaneous candidiasis and tuberculosis in six Colombian patients
- Marcela Moncada-Velez, L. V. Erazo-Borrás, +16 authors J. Franco
- Medicine
- 2018
Background: The transcription factor STAT1 plays a critical role in the immune response against mycobacterial, viral and fungal infections. Different mutations in STAT1 result in diverse clinical… Expand
Next generation sequencing identifies mutations in Colombian patients with primary immunodeficiency diseases
- C. A. Arango-Franco, Marcela Moncada-Velez, +18 authors J. Franco
- Medicine
- 2018
Background: The genetic etiology of several primary immunodeficiency diseases (PID) remains elusive. Next generation technologies represent a cost-effective and rapid first-line genetic approach for… Expand
Novel mutations in NCF4 gene confer non-classic chronic granulomatous disease with disseminated histoplasmosis in a Colombian child
- C. A. Arango-Franco, A. Nieto-Patlán, +13 authors A. A. Arias
- Biology
- 2018
Background: Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by susceptibility to early-onset life-threatening bacterial and fungal infections as well as dysregulated… Expand