[Bacillus Calmette-Guérin infection and chronic granulomatous disease due to new pathogenic variants in the NCF2 gene in the Mayan ethnic group. Report of two cases.]
Ana Karen Peñafiel-VicuñaRogelio Coyata-GuzmánAnelena González ReynosoAdolfo Gonzalo Palma-ChanRicardo Baeza-BastarracheaSherel A García-RuelasÁngeles Costta-MichuyCielo Razo-RequenaXimena León-LaraSara Elva Espinosa-PadillaFrancisco Espinosa-RosalesJacinta BustamanteLizbeth Blancas-GaliciaPublished in: Revista alergia Mexico (Tecamachalco, Puebla, Mexico : 1993) (2023)
In patients with mycobacterial infection with BCG, we should suspect an inborn error of immunity, such as CGD. The diagnosis of CGD is made through the detection of a lack of radical oxygen species in neutrophils. The reported patients had pathogenic variants in the NCF2 gene, two of which have not been previously reported in the literature.
Keyphrases
- copy number
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- mycobacterium tuberculosis
- chronic kidney disease
- dna methylation
- rheumatoid arthritis
- interstitial lung disease
- gene expression
- systemic sclerosis
- genome wide analysis
- idiopathic pulmonary fibrosis
- loop mediated isothermal amplification