Combined Immunodeficiency

Gene: DCLRE1B

Red List (low evidence)

One individual with Hoyeraal-Hreidarsson syndrome reported with shortened transcript in DCLRE1B of the patient’s cells; not seen in controls or other HH patients.

Shortened transcript identified caused by intra-exonic splice of exon 4 leading to out-of-frame deletion causing premature stop codon (denoted splice variant “Apollo-Δ”)

No molecular origin of splice variant could be identified and only linked to HH is by this one reported patient and the known DCLRE1B (SNM1B) role in telomere protection.

Not found in expert literature 2017
(Was present in expert literature 2015)

Created: 19 Aug 2021, 12:34 a.m. | Last Modified: 19 Aug 2021, 12:34 a.m.

Panel Version: 0.345

Mode of inheritance
Unknown

Phenotypes
Dyskeratosis congenita and Hoyeraal-Hreidarsson (HH) syndrome MIM# 616353

Publications

• 20479256
• 21647296