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Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype by Maria Chiriaco; Arianna De Matteis; Cristina Cifaldi; Gigliola Di Matteo; Beatrice Rivalta; Chiara Passarelli; Chiara Perrone; Antonio Novelli; Fabrizio De Benedetti; Antonella Insalaco; Paolo Palma; Andrea Finocchi is a Immunology and Microbiology article available to read on EtoBox.

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Chronic granulomatous disease (CGD) is a human IEI caused by mutations in genes encoding the NADPH oxidase subunits, the enzyme responsible for the respiratory burst. CGD patients have severe life-threatening infections, hyperinflammation and immune dysregulation. Recently, an additional autosomal recessive AR-CGD (type 5) caused by mutations in CYBC1/EROS gene was identified. We report a AR-CGD5 patient with a novel loss of function (LOF) homozygous deletion c.8_7del in the CYBC1 gene including the initiation ATG codon that leads to failure of CYBC1/EROS protein expression and presenting with an unusual clinical manifestation of childhood-onset sarcoidosis-like disease requiring multiple immunosuppressive therapies. We described an abnormal gp91phox protein expression/function in the patient's neutrophils and monocytes (about 50%) and a severely compromised B cell subset (gp91phox < 15%; DHR+ < 4%). Our case-report emphasized the importance of considering a diagnosis of AR-CGD5 deficiency even in absence of typical clinical and laboratory findings.

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Author

Maria Chiriaco; Arianna De Matteis; Cristina Cifaldi; Gigliola Di Matteo; Beatrice Rivalta; Chiara Passarelli; Chiara Perrone; Antonio Novelli; Fabrizio De Benedetti; Antonella Insalaco; Paolo Palma; Andrea Finocchi

Publisher

Elsevier BV

Published

2023

Language

EN

Field

Immunology and Microbiology (Life Sciences)