Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Copyright © 2014 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 154(2014), 2 vom: 29. Okt., Seite 105-11
1. Verfasser: Borte, Stephan (VerfasserIn)
Weitere Verfasser: Celiksoy, Mehmet Halil, Menzel, Volker, Ozkaya, Ozan, Ozen, Fatma Zeynep, Hammarström, Lennart, Yildiran, Alisan
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Amyloidosis CVID Cold-induced autoimmune disease Common variable immunodeficiency NLRP12 Periodic fever syndromes Intracellular Signaling Peptides and Proteins mehr... NLRP12 protein, human RNA 63231-63-0
Beschreibung
Zusammenfassung:Copyright © 2014 Elsevier Inc. All rights reserved.
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
Beschreibung:Date Completed 04.11.2014
Date Revised 13.09.2014
published: Print-Electronic
Citation Status MEDLINE
ISSN:1521-7035
DOI:10.1016/j.clim.2014.07.003