Salmonella Enteritidis cholecystitis with chronic granulomatous disease

Abstract

We describe a 40-year-old woman with Salmonella cholecystitis complicating adult-onset X-linked chronic granulomatous disease (CGD) caused by a de novo mutation in the paternal-origin CYBB gene. CGD was diagnosed by familial genetic analysis of the CYBB gene encoding NADPH oxidase gp91phox after detection of a refractory subcutaneous abscess at the age of 28. At age 40, she began experiencing frequent fever and diarrhea over a period of 3 months that were refractory to antibacterial treatment. Cholecystitis was evident. Her symptoms improved after percutaneous trans-hepatic gallbladder aspiration puncture with stand-by cholecystectomy. Salmonella enterica serotype Enteritidis (S. Enteritidis) was detected in blood, stool, and bile acid samples. Due to her suppressed bactericidal ability caused by CGD, S. Enteritidis was considered to have translocated from the gut to reside in the gallbladder, causing her repeated enteritis and sepsis. When encountering CGD with recurrent salmonellosis, the possibility of cholecystitis should be considered as another infection focus.

Monogenic Adult-Onset Inborn Errors of Immunity

“…Progressive X-chromosome skewing (XCI) can cause an X-linked recessive IEI in women bearing a pathogenic mutation on one X chromosome. This is demonstrated by cases of CGD due to mutations in CYBB in adult women (30,31). Epigenetic changes are well known to influence the transcriptional expression of genes (29).…”

Granulomatous Interstitial Nephritis in Children Resulting from Wegener’s Granulomatosis, Crohn’s Disease, or Sarcoidosis

“…Most often, granulomatous damage involves the skin, lymph nodes, gastrointestinal tract, and liver [23]. Usually, the disease is diagnosed within the first 5 years of life; however, some cases presenting in adulthood have also been reported [23,24].…”

Gallbladder Empyema and Epidural Abscess Due to Salmonella Enteritidis After Treatment of Primary Infection: Case Report and Review of the Literature

“…That patient had underlying chronic granulomatous disease and was initially treated with 10 days of intravenous ceftriaxone for gastroenteritis and bacteremia due to S Enteritidis. After initial improvement, she relapsed and presented after 2 weeks with gallbladder empyema and did well after laparoscopic cholecystectomy [ 4 ].…”

“…With an underlying suppressed immune system, infection can disseminate to other body sites including bones, joints, skin, heart valves, and, rarely, body spaces and meninges. Gallbladder colonization by NTS is a rare phenomenon as compared to Salmonella enterica subsp enterica serovar Typhi ( S Typhi) and has been reported to cause disseminated foci of infection even after resolution of primary infection [ 4 ]. Epidural abscess due to NTS is rare, and all the cases that are reported so far had disseminated disease during the episode of primary infection [ 5 ].…”