title: Coeliac disease and multiple immunodeficiencies: case report of a diagnostic dilemma.
abstract: Coeliac disease (CD) often coexists with other autoimmune and primary immunodeficiency diseases (PID), creating a problem in timely diagnosis and management. An unusual case of coeliac disease that was difficult to diagnose and manage because of its unusual clinical presentation. Initially diagnosed as celiac disease but showed poor response to standard therapy is reported. Frequent attacks of opportunistic infections led to immunodeficiency work-up that revealed natural killer cell (NK) deficiency with low serum IgA and IgG2 levels. The patient eventually succumbed to recurrent infections. The co-existence of PID is unusual in a patient with CD. This case report highlights the importance of investigating PID in patients with autoimmunity.
authors.affiliation: Department of Molecular Biology and Immunology, Dewan Farooq Medical Centre, Sindh Institute of Urology and Transplantation, Karachi, Pakistan. sabiha_anis@hotmail.com
authors.forename: Sabiha
authors.initials: S
authors.lastname: Anis
authors.forename: Rajesh
authors.initials: R
authors.lastname: Kumar
authors.forename: Zaigham
authors.initials: Z
authors.lastname: Abbas
authors.forename: Syed Mujahid
authors.initials: SM
authors.lastname: Hassan
authors.forename: Nasir Hassan
authors.initials: NH
authors.lastname: Luck
authors.forename: Rana
authors.initials: R
authors.lastname: Muzaffar
mesh_terms: D002446:Celiac Disease / Q000150:complications* / Q000175:diagnosis*; D003241:Consanguinity; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis*; D008297:Male; D055815:Young Adult