Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Blancas-Galicia, Lizbeth; Santos-Chávez, Eros Efraín; Deswarte, Caroline; Mignac, Quentin; Medina‐Vera, Isabel; León-Lara, Ximena; Roynard, Manon; Scheffler‐Mendoza, Selma; Rioja-Valencia, Ricardo; Alvirde-Ayala, Alexandra; Reyes, Saúl; Staines-Boone, Tamara; García-Campos, Jorge Alberto; Saucedo-Ramírez, Omar Josué; Navarro, Blanca E Del-Río; Zamora-Chávez, Antonio; López-Larios, Arturo; García-Pavon-Osorio, Susana; Melgoza-Arcos, Eugenia; Canseco-Raymundo, María R; Mogica-Martínez, Dolores; Venancio-Hernández, Marco; Pacheco-Rosas, Daniel Octavio; Pedraza-Sánchez, Sigifredo; Guevara‐Cruz, Martha; Saracho-Weber, F.; Gámez-González, Berenise; Wakida-Kuzunoki, Guillermo; Morán-Mendoza, Ana R; Macías-Robles, Ana Paola; Ramírez-Rivera, Roselia; Vargas-Camaño, Eugenia; Zarate-Hernández, Carmen; Gómez-Tello, Héctor; Ramírez-Sánchez, Emmanuel; Ruíz-Hernández, Fredy; Ramos-López, Domingo; Acuña-Martínez, Héctor; Garciacruz, M; Román-Jiménez, María G; González-Villarreal, Marina G; Álvarez-Cardona, Aristóteles; Llamas-Guillén, Beatriz A; Cuéllar-Rodríguez, Jennifer; Olaya-Vargas, Alberto; Ramírez-Uribe, Nideshda; Boisson–Dupuis, Stéphanie; Casanova, Jean‐Laurent; Espinosa-Rosales, Francisco; Serafín‐López, Jeanet; Yamazaki‐Nakashimada, Marco Antonio; Espinosa-Padilla, Sara; Bustamante, Jacinta

doi:10.1007/s10875-020-00750-5

Cited by 55 publications

(75 citation statements)

References 68 publications

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“…59 CGD patients living in areas endemic for tuberculosis have seen rates of infection that exceeds what is considered usual for those populations. 51,60,61 In this population, pulmonary tuberculosis was the most common manifestation followed by peripheral lymph node involvement; however, a subset of patients with CGD can present with more disseminated, recurrent, and severe disease. 51,61 In some of these endemic areas that are resource poor, the inability to distinguish BCG from tuberculosis has led to…”

Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 88%

“…were the most common microorganisms cultured in cohorts from Europe, Northern India, Israel, Iran, Latin America, and Turkey. 7,22,23,[47][48][49][50][51] Unlike the United States., Salmonella spp. had higher incidences in Europe and Israel and were found to be the most frequent causes of septicemia in both of these studies.…”

Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 99%

“…Among reports from countries who still give BCG, the incidence of BCG adenitis ranged widely from 16.6% to 59.2% (Table 1). 22,23,50,51,57,58 The BCG World Atlas is a helpful database to help determine BCG status of patients from other countries. 59 CGD patients living in areas endemic for tuberculosis have seen rates of infection that exceeds what is considered usual for those populations.…”

Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 99%

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<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Prince¹,

Thielen²,

Williams³

et al. 2020

PHMT

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Chronic granulomatous disease (CGD) is a rare but serious primary immunodeficiency with varying prevalence and rates of X-linked and autosomal recessive disease worldwide. Functional defects in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase complex predispose patients to a relatively narrow spectrum of bacterial and fungal infections that are sometimes fastidious and often difficult to identify. When evaluating and treating patients with CGD, it is important to consider their native country of birth, climate, and living situation, which may predispose them to types of infections that are atypical to your routine practice. In addition to recurrent and often severe infections, patients with CGD and X-linked female carriers are also susceptible to developing many non-infectious complications including tissue granuloma formation and autoimmunity. The DHR-123 oxidation assay is the gold standard for making the diagnosis and it along with genetic testing can help predict the severity and prognosis in patients with CGD. Disease management focuses on prophylaxis with antibacterial, antifungal, and immunomodulatory medications, prompt identification and treatment of acute infections, and prevention of secondary granulomatous complications. While hematopoietic stem-cell transplantation is the only widely available curative treatment for patients with CGD, recent advances in gene therapy may provide a safer, more direct alternative.

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Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 88%

Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 99%

Section: Pathogen Variability Outside Of the United Statesmentioning

confidence: 99%

See 1 more Smart Citation

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Prince¹,

Thielen²,

Williams³

et al. 2020

PHMT

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“…The five WES samples used as positive controls carry rare HMZ disease-causing deletions that were confirmed with state-of-the-art molecular approaches (25)(26)(27). Specifically, these HMZ deletions comprise one or more exons and have different lengths as follows (SI Table 1).…”

Section: Positive Controlsmentioning

confidence: 75%

“…This deletion was demonstrated to be causal for a Mendelian susceptibility to mycobacterial disease (26). P4 has a deletion of the entire CYBB (3,400,000 bp) validated by MLPA and CGH array that resulted in chronic granulomatous disease (27). Finally, P5 is a patient with hyper IgE syndrome carrying a deletion of exons 7 to 15 in entire DOCK8 (28,000 bp) that was validated by Sanger sequencing.…”

Section: Positive Controlsmentioning

confidence: 95%

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing

Bigio

Seeleuthner

Kerner

et al. 2020

Preprint

Self Cite

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The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is important, as CNVs may underlie a number of human genetic disorders. The recently developed HMZDelFinder algorithm can detect rare homozygous and hemizygous (HMZ) deletions in WES data more effectively than other widely used tools. Here, we present HMZDelFinder_opt, an approach that outperforms HMZDelFinder for the detection of HMZ deletions, including partial exon deletions in particular, in typical laboratory cohorts that are generated over time under different experimental conditions. We show that using an optimized reference control set of WES data, based on a PCA-derived Euclidean distance for coverage, strongly improves the detection of HMZ deletions both in real patients carrying validated disease-causing deletions and in simulated data. Furthermore, we develop a sliding window approach enabling HMZDelFinder-opt to identify HMZ partial deletions of exons that are otherwise undiscovered by HMZDelFinder. HMZDelFinder_opt is a timely and powerful approach for detecting HMZ deletions, particularly partial exon deletions, in laboratory cohorts, which are typically heterogeneous.

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Chronic Granulomatous Disease

Stasia

Roos

2023

NADPH Oxidases Revisited: From Function to Structure

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Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

Cited by 55 publications

References 68 publications

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing

Chronic Granulomatous Disease

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