[CIS PIDD] [cis-pidd] CD40L defect carrier detection

[CIS-PIDD]

Hi Richard,
Knowing the exact familial mutation, and having future genetic counseling in mind, makes it difficult settle for anything else than targeted genetic testing. All other tests will still leave room for errors: sister can be lyonized towards the WT allele (up to 10% of women are for not known reasons) and you would only be detecting the “healthy” cells by flow. On the other hand, is the mom a carrier? Even if she is negative (because of de novo mutation in her son, germinal mosaicism, etc) I’d still test the daughter. In terms of when to test the daughter for carrier status…that’s a different issue.
Sergio

Immunology Service, DLM, CC, NIH
srosenzweig at cc.nih.gov<mailto:srosenzweig at cc.nih.gov>

Disclaimer: The information in this e-mail and any of its attachments is confidential and may contain sensitive information. It should not be used by anyone who is not the original intended recipient. If you have received this e-mail in error please inform the sender and delete from your mailbox or any other storage devices. National Institutes of Health shall not accept liability for any statements made that are senders own and not expressly made on behalf of the NIH by one of its representatives.

From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, June 14, 2016 at 9:52 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: [cis-pidd] CD40L defect carrier detection

I follow a young boy with HIGM with the following mutation: g3715C>A in Exon 2 (Genbank EF064753) of CD10L. He now has a new sister. What is the easiest way to test her for carrier status?
Thanks,
Richard Wasserman

--
Richard L. Wasserman, MD, PhD
Allergy Partners of North Texas
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

---

You are currently subscribed to cis-pidd as: srosenzweig at cc.nih.gov<mailto:srosenzweig at cc.nih.gov>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396899.86a62ffdd725077861b50a827b7bc31e&n=T&l=cis-pidd&o=3694455

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3694455-96396899.86a62ffdd725077861b50a827b7bc31e at lyris.dundee.net<mailto:leave-3694455-96396899.86a62ffdd725077861b50a827b7bc31e at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3696804
or send a blank email to leave-3696804-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160615/0c360d4c/attachment-0001.html>