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

[CIS-PIDD]

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



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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

2016-06-15 3:52 GMT+02:00 CIS-PIDD <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
>
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