Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome

Sheng-Chieh Lin, Shyh Dar Shyur, Yi-Chun Ma, Li-Hsin Huang, Hung-Chang Lee, Wen-I. Lee

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10 Citations (Scopus)


X-linked hyper-immunoglobulin M (IgM) syndrome (XHIGM) is a rare genetic primary immunodeficiency disease caused by mutations of the CD40 ligand (CD40L) gene with normal or elevated levels of IgM and markedly decreased serum IgG, IgA, and IgE. Liver disease may occur as a clinical manifestation in XHIGM. This complication appears to increase with age. We report an 18-year-old male patient who had recurrent episodes of acalculous cholecystitis (AC) and sclerosing cholangitis (SC). The diagnosis of XHIGM was confirmed by the finding of CD40L expression <1% of normal and a tyrosine 169 asparaginase (t526a) mutation in exon 5 (the tumor necrosis factor domain) of the CD40L gene. The patient had direct hyperbilirubinemia (direct bilirubin 5.5 mg/dL, total bilirubin 8.7 mg/dL), cholestasis (alkaline phosphatase 1133 U/L, γ-glutamyl transferase 1019 U/L) and elevated transaminases (aspartate aminotransferase 70 U/L, alanine aminotransferase 101 U/L). Findings on abdominal ultrasound and abdominal computed tomography were compatible with AC. After the fourth episode of cholecystitis, cholecystectomy and liver biopsy were performed. Operative cholangiography revealed poor opacification of the hepatic duct and proximal common bile duct; the upstream intrahepatic bile ducts were not visualized. The biopsy specimen showed marked fibrosis of the portal areas. Enterococcus species was cultured from the bile. Children or adolescents with recurrent AC and SC should be evaluated for an underlying immunodeficiency syndrome such as XHIGM.
Original languageEnglish
Pages (from-to)421-426
Number of pages6
JournalJournal of the Formosan Medical Association
Issue number6
Publication statusPublished - 2005
Externally publishedYes


  • Acalculous cholecystitis
  • CD40 ligand
  • Cholangitis, sclerosing
  • Genetic diseases, X-linked
  • Immunologic deficiency syndromes
  • alanine aminotransferase
  • alkaline phosphatase
  • ampicillin
  • asparaginase
  • aspartate aminotransferase
  • bilirubin
  • cefotaxime
  • gamma glutamyltransferase
  • immunoglobulin M
  • tumor necrosis factor
  • tyrosine
  • acalculous cholecystitis
  • adult
  • anamnesis
  • article
  • case report
  • cholecystectomy
  • cholestasis
  • clinical feature
  • computer assisted tomography
  • disease association
  • Enterococcus
  • exon
  • gene mutation
  • hospital admission
  • hospital discharge
  • human
  • human tissue
  • hyperbilirubinemia
  • hyperimmunoglobulinemia M
  • laboratory test
  • liver biopsy
  • liver fibrosis
  • male
  • peroperative cholangiography
  • physical examination
  • protein domain
  • protein expression
  • recurrent disease
  • sclerosing cholangitis
  • ultrasound
  • X chromosome linked disorder
  • adolescent
  • blood
  • cholecystitis
  • genetic linkage
  • genetics
  • hypergammaglobulinemia
  • immune deficiency
  • liver
  • pathology
  • X chromosome
  • Adolescent
  • CD40 Ligand
  • Cholangitis, Sclerosing
  • Cholecystitis
  • Chromosomes, Human, X
  • Humans
  • Hypergammaglobulinemia
  • Immunoglobulin M
  • Immunologic Deficiency Syndromes
  • Linkage (Genetics)
  • Liver
  • Male
  • Recurrence


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