Cernunnos-XLF deficiency
Findings
No curated finding names Cernunnos-XLF deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cernunnos-XLF deficiency is a rare form of combined immunodeficiency characterized by microcephaly, growth retardation, and T and B cell lymphopenia.
Definition from the Mondo Disease Ontology (MONDO:0012650), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
71 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Alopecia universalisHPOHP:0002289
- 1 of 1 reported patient
- Autoimmune hemolytic anemiaHPOHP:0001890
- 3 of 3 reported patients
- Autoimmune thrombocytopeniaHPOHP:0001973
- 2 of 2 reported patients
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Bone marrow hypocellularityHPOHP:0005528
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- CoughHPOHP:0012735
Show the remaining 59
- Decreased total CD8+ T cell proportionHPOHP:0005415
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- DehydrationHPOHP:0001944
- 1 of 1 reported patient
- Erythroid hyperplasiaHPOHP:0012132
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NHEJ1HGNC:25737
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: Cernunnos-XLF deficiency
- Also called
- Cernunnos deficiencyCernunnos XLFDcombined immunodeficiency-microcephaly-growth retardation-sensitivity to ionising radiation syndromecombined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndromeNHEJ1 deficiency