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

[CIS-PIDD]

?Dear Dr Church,


how are B cell numbers in your patient? Many DC patients incl RTEL1 have reduced B and NK cells, which is helpful in initial screening. Although the clinical phenotype of dominant/recessive RTEL1 deficiency is broad - the phenotype of your patient seems to vary a lot from patients with confirmed RTEL1 mutations.  Maybe you find the clinical/laboratory overview in our recent report helpful to look out for previously unrecognized similarities in your patient:

http://journal.frontiersin.org/article/10.3389/fimmu.2017.00449/full

Sharon Savage's lab at the NIH might be a good contact in the US regarding genetic/functional work-up of your patient:

https://dceg.cancer.gov/about/staff-directory/biographies/O-Z/savage-sharon


Otherwise I am also happy to connect you with the Bone Marrow Failure group of Dr Wlodarski here in Freiburg/Germany, who are also following a growing cohort of DC patients.


Kind regards, Carsten Speckmann


--
PD Dr. Carsten Speckmann
Consultant Immunologist and Stem Cell Transplantation

UNIVERSITÄTSKLINIKUM FREIBURG
Centrum für Chronische Immundefizienz (CCI)
Zentrum für Kinder- und Jugendmedizin
Pädiatrische Hämatologie und Onkologie

Mathildenstrasse 1 · 79106 Freiburg · Germany
Telefon: +49 (0)761 270 43010
Telefax: +49 (0)761 270 45990
https://www.uniklinik-freiburg.de/cci/
https://www.uniklinik-freiburg.de/paed-haematologie.html
________________________________
Von: cis-pidd at lyris.dundee.net <cis-pidd at lyris.dundee.net> im Auftrag von CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Gesendet: Sonntag, 7. Mai 2017 22:18
An: CIS-PIDD
Betreff: [cis-pidd] 15yo with RTEL1 variant

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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