Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency |
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| Authors: | Stephan Borte,Mehmet Halil Celiksoy,Volker Menzel,Ozan Ozkaya,Fatma Zeynep Ozen,Lennart Hammarströ m,Alisan Yildiran |
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| Affiliation: | 1. 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;2. Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany;3. ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies Leipzig, Leipzig, Germany;4. Ondokuz May?s University, Medical Faculty, Department of Pediatric Allergy and Immunology, Samsun, Turkey;5. Ondokuz May?s University, Medical Faculty, Department of Pediatric Nephrology, Samsun, Turkey;6. Ondokuz May?s University, Medical Faculty, Department of Pathology, Samsun, Turkey |
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| 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. |
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| Keywords: | NLRP12 Common variable immunodeficiency CVID Amyloidosis Periodic fever syndromes Cold-induced autoimmune disease |
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