[CIS PIDD] [cis-pidd] IgA deficiency gene association

[Bodo Grimbacher]

Not me.
I am surprised Exome sequencing only came up with one single gene being
mutatedŠ there were no other SNV detected?
Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher
Scientific Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
http://www.uniklinik-freiburg.de/cci









Am 08.05.14 18:44 schrieb "Richard Wasserman" unter
<drrichwasserman at gmail.com>:


>I take care of a 6 yo girl with Selective IgA Deficiency and a good

>response to vaccine who has a chronic seizure disorder. Exome sequencing

>identified an abnormal PCDH19 gene that is etiologic for a seizure and an

>abnormality of POLG of unknown significance. Is anyone aware of an

>association of either of these genes with IgA Deficiency or other

>immunodeficiency?

>Richard Wasserman

>Dallas

>

>-- 

>Richard L. Wasserman, MD, PhD

>DallasAllergyImmunology

>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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