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

[CIS-PIDD]

The surest way to detect carrier status would be to screen for the mutation. If not is not feasible, CD40L expression on activated CD4 T lymphs can be performed. If the sister is a carrier she would show a mosaic pattern of staining with one population of activated lymphs showing CD40L expression and the other which do not. However, the relative proportions of these two populations could be highly variable as X chromosome inactivation is a random event.
Regards,
Amit Rawat
 --Dr. Amit Rawat MD (Pathology) PDCC (Laboratory Immunology) PDCC (Nephropathology) MAMS
Additional Professor, Paediatric Allergy & Immunology UnitDepartment of Paediatrics, Advanced Paediatric CentrePostgraduate Institute of Medical Education & ResearchSector 12, Chandigarh 160012. Phone: +91-172-2755682 (Off), +91-99-14208486 (Mob) Email: rawatamit at yahoo.com, amitrawat2002 at rediffmail.com

      From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
 To: CIS-PIDD <cis-pidd at lyris.dundee.net> 
 Sent: Wednesday, June 15, 2016 7:22 AM
 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: rawatamit at yahoo.com.  To unsubscribe click here: http://cts.dundee.net/u?id=104312912.f40fdd03d83a39bdd576158d9bc74830&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-3694455-104312912.f40fdd03d83a39bdd576158d9bc74830 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=3694987
or send a blank email to leave-3694987-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160615/f75831fa/attachment-0001.html>