[CIS PIDD] [cis-pidd] 15yo with RTEL1 variant

[CIS-PIDD]

Colleagues:

I follow a 15yo M with severe eczema, alopecia, Hashimoto thyroiditis, elevated IgE and persistently low NK cell numbers, but normal cytolytic activity.  I evaluated him for IPEX and IPEX-like disorders as available in 2015 and these tests were unrevealing.  In 2016 whole exome sequencing demonstrated a VUS in RTEL1.  Interestingly, his NK cells have shortened telomeres while other WBCs do not.  The patient's mother and sister have the same variant, but are asymptomatic.

The latest CIS meeting had reports of other potential genetic causes of NK cell deficiency:  PIK3CD, ZNF341, CARD11.  I have requested re-analysis of his exome for variants for these, BCL10 and MALT1.

RTEL1 mutations have been associated with autosomal dominant dyskeratosis congenita, so I suppose he could have a single pathogenic variant that causes a disorder with variable penetrance.

Would anyone know of a lab that would be able to and interested in looking at my patient's RTEL1 protein expression and function?

Thank you.

Joe Church, MD
Children's Hospital Los Angeles





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