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

[CIS-PIDD]

As you know the mutation, you may as well do the genetics immediately, after all it is only one sequencing reaction (12 EUR in the research setting) and a more definite result consuming less resources (blood and workforce).
Best, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Breisacherstraße 115, 79106 Freiburg
bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>
www.uniklinik-freiburg.de/cci

Von: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Antworten an: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Datum: Wednesday 15 June 2016 10:17
An: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Betreff: Re: [cis-pidd] CD40L defect carrier detection

I fully agree, but an screening based in CD40 ligand expression would be enough just to stablish the carrier status of the child. She wont have problems for the moment, and the DNA could wait some years.

Oscar de la Calle

[http://cmoffice.kenes.com/ESID16/CM.NET.WebUI/gfx/ESID2016.jpg]

-------------------------------------------------------------------------------------------------------

Dr. Oscar de la Calle-Martín
Laboratoris, Planta -2, Bloc B,
Servei d'Immunologia, Hospital de Sant Pau
C/ San Quintin 89, E-08041 Barcelona, SPAIN
MOVIL SANT PAU 37386 / 682 745 510
93 553 7265 (SECRETARIA), 93 553 7386 / 93 553 7546 (DESPACHO)
odlcalle at gmail.com<mailto:odlcalle at gmail.com>

2016-06-15 3:52 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>:
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: odlcalle at gmail.com<mailto:odlcalle at gmail.com>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396827.93dd3a2b0f76183fd8124655eb7dd28c&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-3694455-96396827.93dd3a2b0f76183fd8124655eb7dd28c at lyris.dundee.net<mailto:leave-3694455-96396827.93dd3a2b0f76183fd8124655eb7dd28c at lyris.dundee.net>


---

You are currently subscribed to cis-pidd as: bodo.grimbacher at uniklinik-freiburg.de<mailto:bodo.grimbacher at uniklinik-freiburg.de>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a&n=T&l=cis-pidd&o=3695754

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

or send a blank email to leave-3695754-96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a at lyris.dundee.net<mailto:leave-3695754-96396431.4f2a33ac30bfa58d3a76b5fb5b03d33a 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=3710318
or send a blank email to leave-3710318-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160623/f15ea06f/attachment-0001.html>