BRIEF COMMUNICATION Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency Stephan Borte a , b , c , ⁎ , Mehmet Halil Celiksoy d , Volker Menzel b , Ozan Ozkaya e , Fatma Zeynep Ozen f , Lennart Hammarström b , Alisan Yildiran d a Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Stockholm, Sweden b Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany c ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies Leipzig, Leipzig, Germany d Ondokuz Mayıs University, Medical Faculty, Department of Pediatric Allergy and Immunology, Samsun, Turkey e Ondokuz Mayıs University, Medical Faculty, Department of Pediatric Nephrology, Samsun, Turkey f Ondokuz Mayıs University, Medical Faculty, Department of Pathology, Samsun, Turkey Received 21 April 2014; accepted with revision 16 July 2014 KEYWORDS NLRP12; Common variable immunodeficiency; CVID; Amyloidosis; Periodic fever syndromes; Cold-induced autoimmune disease Abstract Heterozygous mutations in the NLRP12 gene have been found in patients with systemic auto-inflammatory diseases. However, the NLRP12-associated periodic fever syndromes show a wide clinical spectrum, including patients without classical diagnostic symptoms. Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel compound heterozygous mutations in NLRP12, identified by whole exome and transcriptome sequencing. CVID is a primary immunodeficiency characterized by low serum immunoglobulins, recurrent bacterial infections and development of malignancy, but it also presents with a magnitude of autoimmune features. Because of the unspecific heterogeneous clinical features of the disease, a delay in diagnosis is common. Secondary, inflammatory (AA type) amyloidosis has infrequently been observed in CVID patients. Based on our case observation and a critical review of the literature, we suggest that NLRP12 mutations might account for a small fraction of CVID patients with severe auto-inflammatory complications. © 2014 Elsevier Inc. All rights reserved. ⁎ Corresponding author at: Karolinska Institutet, Division of Clinical Immunology, SE141-86 Stockholm, Sweden. Fax: +46 49 341 6522 9512. E-mail address: Stephan.Borte@ki.se (S. Borte). http://dx.doi.org/10.1016/j.clim.2014.07.003 1521-6616/© 2014 Elsevier Inc. All rights reserved. available at www.sciencedirect.com Clinical Immunology www.elsevier.com/locate/yclim Clinical Immunology (2014) 154, 105–111