[CIS PIDD] [cis-pidd] 18 p deletion and multiple autoimmune diseases

[Yeşim Yılmaz Demirdağ]

Dear Mikko and Elisabeth,
Thanks for the references and also thanks for Esther's e-mail address. I
will get in touch with her now.
All the best,
Yesim


Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
3959 Broadway Room: CHN 107
New York, NY 10032
phone: (212) 305 2300
fax: (212) 305 4538
yyd2101 at cumc.columbia.edu


On Wed, May 27, 2015 at 12:47 AM, Seppänen Mikko <Mikko.Seppanen at hus.fi>
wrote:

> Hi Yesim,
>
> there is a still unpublished (hopefully will come out soon) cohort of
> chromosomal PIDDs from an ESID survey, performed by Esther de Vries and
> Ellen Schatorje et al, where there are a few comparable patients.
>
> 18p dels and ring chromosomes are associated with multiple autoimmunity,
> salient literature (compiled by our Dutch colleagues):
>
> McGoey RR et al Clin Dysmorphol 2011;20:127
> Recalcati MP et al, Eur J Med Genet 2010; 53:186
> Browning MJ J Investig Allergol Clin Immunol 2010:20:263
> Sripanidkulchai R et al J Med Assoc Thai 2006; 89:878
> Kellermayer R et al. Am J Med Genet A 2005; 139:234
>
> In the newly published and very worthwhile Stiehm's Immune Deficiencies by
> Kate and Richard (Eds) there is yet another excellent chapter on "Genetic
> syndromes with evidence of immune deficiency" (pp. 281-324) again by
> Jeffrey E Ming and John M Graham Jr, where this is also mini-reviewed.
>
> I suggest you e-mail to Esther E.d.Vries at jbz.nl . That way the colleagues
> having these patients and you could get in touch and share experiences.
>
> All the best, hope this helps
>
> Mikko
>
>
> oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE), HUS
>
> Mikko Seppänen, MD, PhD, Associate professor
> Specialist in Internal Medicine and Infectious Diseases
> Chief, Rare Disease Center, Helsinki University Hospital (HUH)
> Children’s Hospital, P.O.Box 280
> FI-00029 HUS
> FINLAND
> &
> Senior Consultant (PIDD)
> Adult Immunodeficiency Unit
> Inflammation Center, HUH
>
> phone +358 9 47180201
> GSM +358 50 4279606
> fax +359 9 47174703
>
>
>
> -----Alkuperäinen viesti-----
> Lähettäjä: Yeşim Yılmaz Demirdağ [mailto:dryesimyilmaz at gmail.com]
> Lähetetty: 26. toukokuuta 2015 23:56
> Vastaanottaja: CIS-PIDD
> Aihe: [cis-pidd] 18 p deletion and multiple autoimmune diseases
>
> Dear all,
> I am seeing a 6-year-old boy with a large interstitial deletion on the p
> arm of chromosome 18. I'd appreciate your comments. His history is very
> impressive:
> - Autoimmune hypothyroidism diagnosed at 4 months
> - Type 1 Diabetes diagnosed at 9 months
> - Psoriasis (mild) at 1 year of age
> - Autoimmune gastritis diagnosed at 6 years There is no history of
> recurrent infections of any kind.
> He has mild developmental delay, intermittent diarrhea or constipation,
> and mild iron deficiency anemia.
> Immunologic evaluation at 2 yrs was unremarkable (normal CBC w diff,
> QuIgs, lymphocyte subsets, Foxp3 expression, complement, specific titers).
> I am thinking about checking for Foxp3 mutation.
>
> Thank you,
> Yesim
>
> Yesim Yilmaz Demirdag, MD
> Columbia University Medical Center
> 3959 Broadway Room: CHN 107
> New York, NY 10032
> phone: (212) 305 2300
> fax: (212) 305 4538
>
> ---
> You are currently subscribed to cis-pidd as: mikko.seppanen at hus.fi.
> To unsubscribe click here:
> http://cts.dundee.net/u?id=99266512.00d254228cd4b291924022bf56fac1f0&n=T&l=cis-pidd&o=2861945
> or send a blank email to
> leave-2861945-99266512.00d254228cd4b291924022bf56fac1f0 at lyris.dundee.net
>
> ---
> You are currently subscribed to cis-pidd as: dryesimyilmaz at gmail.com.
> To unsubscribe click here:
> http://cts.dundee.net/u?id=96396501.dcd0c9ab35d3ac44d4eef098bc4af6b8&n=T&l=cis-pidd&o=2862874
> or send a blank email to
> leave-2862874-96396501.dcd0c9ab35d3ac44d4eef098bc4af6b8 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=2863759
or send a blank email to leave-2863759-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150527/ea2a909b/attachment-0001.html>