Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: Case report and review of the literature

International Archives of Allergy and Immunology

Volumn 159, Issue 2, 2012, Pages 204-208

  Rahman, Monira ^a   Chapel, Helen ^a   Chapman, Roger W ^a   Collier, Jane D ^a  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

CD40 ligand deficiency; Cholangiocarcinoma; Cryptosporidial infection; Hyper immunoglobulin M syndrome; Sclerosing cholangitis

Indexed keywords

ALKALINE PHOSPHATASE; ANTIDEPRESSANT AGENT; AZITHROMYCIN; CD40 LIGAND; GAMMA GLUTAMYLTRANSFERASE; IMMUNOGLOBULIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; NITAZOXANIDE; PAROMOMYCIN; URSODEOXYCHOLIC ACID;

ADULT; ANTIDEPRESSANT ACTIVITY; ASCITES; BACTERIAL PERITONITIS; BILE DUCT CARCINOMA; BONE MARROW TRANSPLANTATION; BRAIN DISEASE; CASE REPORT; CHOLANGITIS; COMPUTER ASSISTED TOMOGRAPHY; CRYPTOSPORIDIOSIS; DIARRHEA; DRUG WITHDRAWAL; ECHOGRAPHY; ENDOSCOPE; ENDOSCOPIC RETROGRADE CHOLANGIOPANCREATOGRAPHY; ESOPHAGUS VARICES BLEEDING; FATIGUE; GALLBLADDER; GENE MUTATION; HUMAN; HYPER IGM SYNDROME; IMMUNOFLUORESCENCE TEST; IMMUNOGLOBULIN BLOOD LEVEL; LIVER BIOPSY; LIVER DISEASE; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; LOBECTOMY; MALE; PNEUMOCYSTOSIS; PNEUMONIA; POLYMERASE CHAIN REACTION; POLYP; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PRURITUS; RECURRENT DISEASE; REVIEW; SCLEROSING CHOLANGITIS; STEATORRHEA; STOMACH FUNDUS; T LYMPHOCYTE; WEIGHT REDUCTION;

ADULT; BILE DUCT NEOPLASMS; BILE DUCTS, INTRAHEPATIC; BONE MARROW TRANSPLANTATION; CD40 LIGAND; CHOLANGIOCARCINOMA; CHOLANGITIS, SCLEROSING; CRYPTOSPORIDIOSIS; CRYPTOSPORIDIUM PARVUM; HUMANS; HYPER-IGM IMMUNODEFICIENCY SYNDROME; MALE; POINT MUTATION; RISK FACTORS;

EID: 84861801978     PISSN: 10182438     EISSN: 14230097     Source Type: Journal    
DOI: 10.1159/000337457     Document Type: Review

References (29)

1. Török O, Tóth B, Erdös M, Csorba G, Gyimesi E, Balogh I, Tóth Z, Maródi L: Molecular diagnostic challenges and complex management of consecutive twin pregnancies in a family with CD40 ligand deficiency. Scand J Immunol 2011, E-pub ahead of prin.t.
2. Notorangelo LD, Toniati P, Vihinen M: European registry for X-linked immunodeficiency with hyper-IgM. Yearly Report, 2000.
3. Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, et al: The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 2003; 82: 373-384.
4. Dimicoli S, Bensoussan D, Latger-Cannard V, Straczek J, Antunes L, Mainard L, et al: Complete recovery from Cryptosporidium parvum infection with gastroenteritis and sclerosing cholangitis after successful bone marrow transplantation in two brothers with X-linked hyper-IgM syndrome. Bone Marrow Transplant 2003; 32: 733-737.
5. Erdos M, Garami M, Rákóczi E, Zalatnai A, Steinbach D, Baumann U, Kropshofer G, Tóth B, Maródi L: Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: report of four cases and review of the literature. Clin Immunol 2008; 129: 455-461.
6. Hayward AR, Levy J, Facchetti F, Notorangelo L, Ochs HD, Etzioni A, et al: Cholangiopathy and tumours of the pancreas, liver and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol 1997; 158: 977-983.
7. McLauchlin J, Amar CF, Pedraza-Diaz S, Mieli-Vergani G, Hadzic N, Davies EG: Polymerase chain reaction-based diagnosis of infection with Cryptosporidium in children with primary immunodeficiencies. Pediatr Infect Dis J 2003; 22: 329-335.
8. Lin SC, Shyur SD, Ma YC, Huang LH, Lee HC, Lee WI: Recurrent acalculous cholecystitis and sclerosing cholangitis in a patient with X-linked hyper-immunoglobulin M syndrome. J Formos Med Assoc 2005; 104: 421-426.
9. Bejaoui M, Mellouli F, Chouanine R, Dellagi K, Barbouche MR: The hyper-IgM syndrome: 13 observations. Presse Med 2003; 32: 544-549.
10. Banatvala N, Davies J, Kanariou M, Strobel S, Levinsky R, Morgan G: Hypogammaglobulinaemia associated with normal or increased IgM (the hyper-IgM syndrome): a case series review. Arch Dis Child 1994; 71: 150-152.
11. Notarangelo LD, Duse M, Ugazio AG: Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev 1992; 3: 101-122.
12. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, et al: Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr 1997; 131: 47-54.
13. Tomizawa D, Imai K, Ito S, Kajiwara M, Minegishi Y, Nagasawa M, et al: Allogeneic hematopoietic stem cell transplantation for seven children with X-linked hyper-IgM syndrome: a single center experience. Am J Hematol 2004; 76: 33-39.
14. Khawaja K, Gennery AR, Flood TJ, Abinum M, Cant AJ: Bone marrow transplantation for CD40 ligand deficiency: a single centre experience. Arch Dis Child 2001; 84: 508-511.
15. Duplantier JE, Seyama K, Day NK, Hitchcock R, Nelson RP, Ochs HD, et al: Immunologic reconstitution following bone marrow transplantation for X-linked hyper-IgM syndrome. Clin Immunol 2001; 98: 313-318.
16. Rodrigues F, Davies EG, Harrison P, McLauchlin J, Karani J, Portman B, et al: Liver disease in children with primary immunodeficiencies. J Pediatr 2004; 145: 333-339.
17. Cosyns M, Tsirikin S, Jones M, Flavell R, Kikutani H, Hayward AR: Requirement for CD40-CD40 ligand interaction for elimination of Cryptosporidium parvum from mice. Infect Immun 1998; 66: 603-607.
18. Eichelberger MC, Suresh P, Rehg JE: Protection from Cryptosporidium parvum infection by gamma delta T cells in mice that lack alpha beta T cells. Comp Med 2000; 50: 270-276.
19. Meamar AR, Rezaian M, Rezaie S, Mohraz M, Kia EB, Houpt ER, et al: Cryptosporidium parvum bovine genotype oocysts in the respiratory samples of an AIDS patient: efficacy of treatment with a combination of azithromycin and paromomycin. Parasitol Res 2006; 98: 593-595.
20. American Hospital Formulary Service (AHFS) 2002. Bethesda, American Society of Health System Pharmaceuticals, 2002.
21. Abubakar I, Aliya SH, Arumugam C, Hunter PR, Usman NK: Prevention and treatment of cryptosporidiosis in immunocompromised patients. Cochrane Database Syst Rev 2007; 1:CD004932.
22. Gennery AR, Khawaja K, Veys P, Bredius RG, Notarangelo LD, Mazzolari E, et al: Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood 2004; 103: 1152-1157.
23. Stephens J, Cosyns M, Jones M, Hayward A: Liver and bile duct pathology following Cryptosporidium parvum infection of immunodeficient mice. Hepatology 1999; 30: 27-35.
24. Abdalian R, Heathcote E: J. Sclerosing cholangitis: a focus on secondary causes. Hepatology 2006; 44: 1063-1074.
25. Seyama K, Nonoyama S, Gangsaas I, Hollenbaugh D, Pabst HF, Aruffo A, et al: Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper-IgM syndrome. Blood 1998; 92: 2421-2434.
26. Lee W-I, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD: Molecular analysis of a large cohort of patients with the hyper-IgM syndrome (HIGM). Blood 2005; 105: 1881-1890.
27. Danielian S, Oleastro M, Eva Rivas M, Cantisano C, Zelazko M: Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called 'milder' mutants. J Clin Immunol 2007; 27: 455-459.
28. de Vries E, Noordzij JG, Davies EG, Hartwig N, Breuning MH, Van Dongen JJM, et al: The 782C-1 T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. Blood 1999; 94: 1488-1490.
29. Thomas C, de Saint Basile G, Le Deist F, Theophile D, Benkerrou M, Haddad E, et al: Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation. N Engl J Med 1995; 333: 426-429.