Macrophage Activation Syndrome Secondary to Histoplasmosis in an Adult Female Carrier of X-linked Chronic Granulomatous Disease with Extreme Lyonization

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Leon Lara Ximena; Garcia Pavon Osorio Susana; Espinosa Padilla Sara; Blancas Galicia Lizbeth

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Journal Paper

Paper Information

Journal: Iranian Journal of Allergy, Asthma and Immunology Year:2023 | Volume:22 | Issue:6 Page(s): 609-612

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Title

Macrophage Activation Syndrome Secondary to Histoplasmosis in an Adult Female Carrier of X-linked Chronic Granulomatous Disease with Extreme Lyonization

Author(s)

Leon Lara Ximena | Garcia Pavon Osorio Susana | Espinosa Padilla Sara | Blancas Galicia Lizbeth | Issue Writer Certificate

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Abstract

Dear Editor: Chronic granulomatous disease (CGD) is an inborn error of immunity (IEI) characterized by recurrent, lifethreatening bacterial and fungal infections and inflammatory complications. 1 Deficiency in phagocyte NADPH oxidase function due to pathogenic variants in CYBB, CYBA, NCF1, NCF2, NCF4, or CYBC1 has been recognized as a genetic cause of CGD. 1 Abnormal NADPH oxidase activity leads to abnormal production of reactive oxygen species (ROS). 1 The most common form of CGD is X-linked (XL) due to a mutation in the CYBB gene. 1 XL-CGD female carriers have a dual phagocyte population due to lyonization, with 20% to 80% functioning neutrophils. 2 In XL-CGD carriers, infections occur when the percentage of functioning neutrophils ranges from 10 to 5%. However, the inflammatory and autoimmune manifestations do not correlate with a given percentage of functioning neutrophils...

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