### Diagnosis X-Linked defect in nicotinamide adenine dinucleotide phosphate oxidase activity.  Diagnose with the nitroblue-tetrazolium (NBT) test. That has been a bored question. There is also genetic testing. Five types: X-linked [[Chronic Granulomatous Disease]] ([[Chronic Granulomatous Disease]]), autosomal recessive cytochrome b-negative [[Chronic Granulomatous Disease]], autosomal recessive cytochrome b-positive [[Chronic Granulomatous Disease]], type I autosomal recessive cytochrome b-positive [[Chronic Granulomatous Disease]], type II atypical granulomatous disease. Females can be carriers, depending on the ratio of normal to [[Chronic Granulomatous Disease]] PMN's, are at increased risk for infection. [^1] ### Syndromes Lung infection occurs in 87% of patients and [[Liver Abscess]] in 32%. [^2] They can get a variety of other, often deep, infections. ### Microbiology *[[Aspergillus]]* with an incidence of 2.6 cases per 100 patient-years; *A*. *nidulans* is uniquely a pathogen in [[Chronic Granulomatous Disease]]. [^3]  And there is a case due to *A*. *felis*, a cause of sino-orbital aspergillosis in cats. [^4] The cats, as best I can tell, do not have [[Chronic Granulomatous Disease]]. There are a variety of bacteria reported to cause infections in [[Chronic Granulomatous Disease]]: *[[Listeria]]*, *E*. *coli*. *[[Klebsiella]]*, *[[Burkholderia]]*, 1.06 per 100 patient-years; *[[Nocardia]]*, 0.81 per 100 patient-years; *[[Serratia]]*, 0.98 per 100 patient-years, and severe *[[Staphylococcus]]* infection, 1.44 per 100 patient-years. [[Chronic Granulomatous Disease]] patients also get infections with Methylotrophs:  *[[Granulibacter]]* *bethesdensis* (9 cases), *Acidomonas* *methanolica* (2 cases), and *Methylobacterium* *lusitanum* (1 case).  To quote the EID article > "Methylotroph infections in [[Chronic Granulomatous Disease]] patients typically result in elevated inflammatory markers and lymphadenopathy, which may progress to necrotizing [[Lymphadenitis]] with or without abscess formation. The clinical course may be protracted because of infection persistence, antimicrobial drug resistance, and relapse. Culturing these bacteria is difficult, requiring atypical media and prolonged incubation." [^5] ### Treatment Interferon-gamma 1b decreases infections. That was on the ID boards. I think I missed it as they had 5 different interferons to choose from. Like I am going to remember which one. Liver abscesses do better with steroids. [^6] Along with drainage and antibiotics. Duh. ### Rationalizations [^1]: Marciano BE, Zerbe CS, Falcone EL, Ding L, DeRavin SS, Daub J, Kreuzburg S, Yockey L, Hunsberger S, Foruraghi L, Barnhart LA, Matharu K, Anderson V, Darnell DN, Frein C, Fink DL, Lau KP, Long Priel DA, Gallin JI, Malech HL, Uzel G, Freeman AF, Kuhns DB, Rosenzweig SD, Holland SM. X-linked carriers of [[Chronic Granulomatous Disease]]: Illness, lyonization, and stability. J Allergy Clin Immunol. 2018 Jan;141(1):365-371. doi: 10.1016/j.jaci.2017.04.035. Epub 2017 May 18. PMID: 28528201. [^2]: Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, Yockey L, Darnell DN, Barnhart L, Daub J, Boris L, Rump AP, Anderson VL, Haney C, Kuhns DB, Rosenzweig SD, Kelly C, Zelazny A, Mason T, DeRavin SS, Kang E, Gallin JI, Malech HL, Olivier KN, Uzel G, Freeman AF, Heller T, Zerbe CS, Holland SM. Common severe infections in [[Chronic Granulomatous Disease]]. Clin Infect Dis. 2015 Apr 15;60(8):1176-83. doi: 10.1093/cid/ciu1154. Epub 2014 Dec 23. PMID: 25537876; PMCID: PMC4400412. [^3]: Henriet SS, Verweij PE, Warris A. [[Aspergillus]] nidulans and [[Chronic Granulomatous Disease]]: a unique host-pathogen interaction. J Infect Dis. 2012 Oct 1;206(7):1128-37. doi: 10.1093/infdis/jis473. Epub 2012 Jul 24. PMID: 22829648. [^4]: Paccoud O, Guery R, Poirée S, et al. [[Aspergillus]] felis in Patient with [[Chronic Granulomatous Disease]]. _Emerging Infectious Diseases_. 2019;25(12):2319-2321. doi:10.3201/eid2512.191020. [^5]: Falcone E, Petts JR, Fasano M, et al. Methylotroph Infections and [[Chronic Granulomatous Disease]]. _Emerging Infectious Diseases_. 2016;22(3):404-409. doi:10.3201/eid2203.151265. [^6]: Straughan DM, McLoughlin KC, Mullinax JE, Marciano BE, Freeman AF, Anderson VL, Uzel G, Azoury SC, Sorber R, Quadri HS, Malech HL, DeRavin SS, Kamal N, Koh C, Zerbe CS, Kuhns DB, Gallin JI, Heller T, Holland SM, Rudloff U. The Changing Paradigm of Management of Liver Abscesses in [[Chronic Granulomatous Disease]]. Clin Infect Dis. 2018 Apr 17;66(9):1427-1434. doi: 10.1093/cid/cix1012. PMID: 29145578; PMCID: PMC6248449.