Cernunnos-XLF deficiency
Synonyms: Cernunnos XLFD | Cernunnos deficiency | Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome | NHEJ1 deficiency
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly growth retardation and T and B cell lymphopenia.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Cernunnos-XLF deficiency?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Clinical Trials
For a list of clinical trials in this disease area, please click here.