KuehniCEFrischerTStrippoliMPFet al; ERS Task Force on Primary Ciliary Dyskinesia in Children. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36:1248-1258. doi:10.1183/09031936.00001010.
5.
KnowlesMRDanielsLADavisSDZariwalaMALeighMW. Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. Am J Respir Crit Care Med. 2013;188:913-922. doi:10.1164/rccm.201301-0059CI.
6.
KurkowiakMZiętkiewiczEWittM. Recent advances in primary ciliary dyskinesia genetics. J Med Genet. 2015;52:1-9. doi:10.1136/jmedgenet-2014-102755.
7.
WernerCOnnebrinkJGOmranH. Diagnosis and management of primary ciliary dyskinesia. Cilia. 2015;4:2. doi:10.1186/s13630-014-0011-8.
8.
SoharEGafniJPrasMHellerH. Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med. 1967;43:227-253. doi:10.1016/0002-9343(67)90167-2.
9.
LivnehALangevitzPZemerDet al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum. 1996;26:612-627.
10.
Van Der HilstJCHSimonADrenthJPH. Hereditary periodic fever and reactive amyloidosis. Clin Exp Med. 2005;5:87-98. doi:10.1007/s10238-005-0071-6.
ChaeJJKomarowHDChengJet al. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell. 2003;11:591-604. doi:10.1016/S1097-2765(03)00056-X.
13.
Estébanez MuñozMGómez CerezoJBarbado HernándezFJ. The spectrum of familial Mediterranean fever [in Spanish]. Rev Clin Esp. 2007;207:508-509.
14.
ZemerDLivnehADanonYLPrasMSoharE. Long-term colchicine treatment in children with familial Mediterranean fever. Arthritis Rheum. 1991;34:973-977.
15.
PennarunGEscudierEChapelinCet al. Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. Am J Hum Genet. 1999;65:1508-1519. doi:10.1086/302683.
16.
ZariwalaMALeighMWCeppaFet al. Mutations of DNAI1 in primary ciliary dyskinesia: Evidence of founder effect in a common mutation. Am J Respir Crit Care Med. 2006;174:858-866. doi:10.1164/rccm.200603-370OC.
17.
DrenthJPHvan Der MeerJWM. The inflammasome—a linebacker of innate defense. N Engl J Med. 2006;355:730-732. doi:10.1056/NEJMcibr063500.
18.
ÇetinDGenç ÇetinBŞentürkTŞahin ÇildağSYılmaz Akdamİ. Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. Mod Rheumatol. 2015;25:312-314. doi:10.3109/14397595.2013.874756.
19.
OzenSKaraaslanYOzdemirOet al. Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol. 1998;25:2445-2449.
20.
WoodsCGCoxJSpringellKet al. Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet. 2006;78:889-896. doi:10.1086/503875.