Combined Immunodeficiency

Gene: NHP2

Green List (high evidence)

Third family reported with extreme end of the spectrum of DKC, Høyeraal-Hreidarsson syndrome.

Created: 10 Aug 2021, 7:13 a.m. | Last Modified: 10 Aug 2021, 7:14 a.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2 MIM# 613987; Shortened telomeres; Leukoplakia; Nail dystrophy; Bone marrow failure; Pancytopaenia; reticulate skin pigmentation; Thrombocytopaenia; recurrent opportunistic infections

Publications

• 31985013

I don't know

2 unrelated individuals with homozygous and compound heterozygous (missense and stop codon) variants displaying Dyskeratosis congenita; One mouse model

Homozygous Variant: c.415T>C (p.Tyr139His)
Compound Heterozygous variants: c.376 G>A (p.Val126Met) & c.460T>A (p.X154ArgextX*52)

Individuals display classical mucocutaneous triad of nail dystrophy, leucoplakia, and reticulate skin pigmentation in addition to thrombocytopaenia and recurrent opportunistic infections.

Created: 9 Aug 2021, 10:56 p.m. | Last Modified: 9 Aug 2021, 10:56 p.m.

Panel Version: 0.291

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal recessive 2 MIM# 613987; Shortened telomeres; Leukoplakia; Nail dystrophy; Bone marrow failure; Pancytopaenia; reticulate skin pigmentation; Thrombocytopaenia; recurrent opportunistic infections

Publications

• 20301779
• 18523010