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primary ciliary dyskinesia


Sunday 23 November 2003

PCD, immotile cilia syndrome

Digital case (Digital slides)

- HPC:366 : Bronchiectasis in ciliary dyskinesia

Definition: Autosomal recessive chronic pulmonary disease.


- bronchiectasis
- immotile cilia
- ciliary dyskinesia
- chronic rhinitis
- sinusitis
- nasal polyps
- abnormal dynein arms by electron microscopy

Etiology: 5 loci have been identified.

DNAI1 CILD1 MIM.242650 9p21-p13
unknown CILD2 MIM.606763 19q13.3-qter
DNAH5 CILD3 MIM.608644 5p15-p14
unknown CILD4 MIM.608646 15q13.1-q15.1
unknown CILD5 MIM.608647 16p12.2-p12.1

See also

- Kartagener syndrome


-  Afzelius BA. Cilia-related diseases. J Pathol. 2004 Nov;204(4):470-7. PMID: 15495266

- Ibanez-Tallon I, Heintz N, Omran H. To beat or not to beat : roles of cilia in development and disease. Hum Mol Genet. 2003 Apr 2 ;12(Suppl 1) :R27-35. PMID : 12668594

- El Zein L, Omran H, Bouvagnet P. Lateralization defects and ciliary dyskinesia : lessons from algae. Trends Genet. 2003 Mar ;19(3):162-7. PMID : 12615011