Unique Presentation of Common Variable Immunodeficiency: Enteropathy Unaccompanied by Infectious Phenotype

Document Type: Case Report


1 Department of Gastroenterology and Hepatology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran.

2 Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran.


Enteropathy is one of the rare manifestations of common variable immunodeficiency (CVID) as a predominant antibody deficiency. Proper diagnosis of this phenotype in CVID cases is difficult and may result in inaccurate assessment or incorrect management. Further, this misdiagnosis is more probable when noninfectious diarrhea is the only manifestation of CVID. We present herein a case with such an abstruse condition who was misdiagnosed as a celiac disease leading to delayed diagnosis of her primary immunodeficiency disease. We also offer a review on enteropathy manifestation in CVID patients.


1. Aghamohammadi A, Farhoudi A, Moin M, Rezaei N, Kouhi A, Pourpak Z et al. Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency. Clinical and diagnostic laboratory immunology. 2005;12:825-32.. 2. Aghamohammadi A, Parvaneh N, Rezaei N. Common variable immunodeficiency: a heterogeneous group needs furthersubclassification. Expert review of clinical immunology. 2009;5:629-31. 3. Khodadad A, Aghamohammadi A, Parvaneh N, Rezaei N, Mahjoob F, Bashashati M et al. Gastrointestinal manifestations in patients with common variable immunodeficiency. Digestive diseases and sciences. 2007;52:2977-83. 4. Aghamohammadi A, Abolhassani H, Moazzami K, Parvaneh N, Rezaei N. Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. Journal of investigational allergology & clinical immunology. 2010;20:372-9. 5. Chapel H, Cunningham-Rundles C. Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. British journal of haematology. 2009;145:709- 27. 6. Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112:277-86. 7. Patel J, Kumar A, Agasti A, Choksey A, Phadke A, Sawant P. CVID enteropathy- a rare cause of chronic diarrhea in a child. Indian journal of pediatrics. 2012;79:1374-6. 8. Lai Ping So A, Mayer L. Gastrointestinal manifestations of primary immunodeficiency disorders. Seminars in gastrointestinal disease. 1997;8:22-32. 9. Luzi G, Zullo A, Iebba F, Rinaldi V, Sanchez Mete L, Muscaritoli M et al. Duodenal pathology and clinical-immunological implications in common variable immunodeficiency patients. The American journal of gastroenterology. 2003;98:118-21. 10. Teahon K, Webster AD, Price AB, Weston J, Bjarnason I. Studies on the enteropathy associated with primary hypogammaglobulinaemia. Gut. 1994;35:1244- 9. 11. Daniels JA, Lederman HM, Maitra A, Montgomery EA. Gastrointestinal tract pathology in patients with common variable immunodeficiency (CVID): a clinicopathologic study and review. The American journal of surgical pathology. 2007;31:1800-12. 12. Kalha I, Sellin JH. Common variable immunodeficiency and the gastrointestinal tract. Current gastroenterology reports. 2004;6:377- 83. 13. Tahan V, Dobrucali A, Canbakan B, Hamzaoglu I, Ozaras R, Biyikli M et al. Cytomegalovirus infection of gastrointestinal tract with multiple ulcers and strictures, causing obstruction in a patient with common variable immunodeficiency syndrome. Digestive diseases and sciences. 2000;45:1781-5. 14. Aukrust P, Lien E, Kristoffersen AK, Muller F, Haug CJ, Espevik T et al. Persistent activation of the tumor necrosis factor system in a subgroup of patients with common variable immunodeficiency--possible immunologic andclinical consequences. Blood. 1996;87:674-81. 15. Heneghan MA, Stevens FM, Cryan EM, Warner RH, McCarthy CF. Celiac sprue and immunodeficiency states: a 25-year review. Journal of clinical gastroenterology. 1997;25:421-5. 16. Oksenhendler E, Gerard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R et al. Infections in 252 patients with common variable immunodeficiency. Clinical infectious diseases: an official publication of the Infectious Diseases Society of America. 2008;46:1547-54. 17. Malamut G, Verkarre V, Suarez F, Viallard JF, Lascaux AS, Cosnes J et al. The enteropathy associated with common variable immunodeficiency: the delineated frontiers with celiac disease. The American journal of gastroenterology. 2010;105:2262-75. 18. Cordova Guevara H, Guarner Aguilar L. Effective treatment of common variable immunodeficiency associated diarrhea. Revista espanola de enfermedades digestivas: organo oficial de la Sociedad Espanola de Patologia Digestiva. 2009;101:215-9.