[CIS PIDD] [cis-pidd] Hypereosinophilia and hyperIgE

[Eleonora Gambineri]

Thank you! 
HIGE score is 25. Nothing particularly relevant in family history, no developmental delay and no signs of vasculitis or chronic viremias.
Anyhow PGM3 is a good suggestion. Can you suggest any center that can sequence the gene on a research basis?

Thanks
Ele
> On 23/mar/2015, at 17:51, Peter Olbrich <olbpet at gmail.com> wrote:
> 
> Hi Eleonora,
> Could you tell us a bit about a possible family history? Any signs of vasculitis? Chronic viremias? Neurodevelopment delayed?
> Apart from Jobs and DOCK2 and DOCK8 you might also want to put PGM3 on your differential.....
> 
> Best,
> Peter
> 
> 
> 2015-03-23 17:31 GMT+01:00 Eleonora Gambineri <eleonora.gambineri at unifi.it <mailto:eleonora.gambineri at unifi.it>>:
> Dear all,
> 
> I will appreciate if you can give me some suggestions with the case below.
> 
> 
> 12 y and 10 m/old male
> History of atopic dermatitis with negative prick test
> Suffered from recurrent upper respiratory infections in infancy (1 episode of pneumonia at 18 months of age without X-ray documentation)
> Sometimes he suffers from recurrent warts
> Delayed eruption of permanent teeth (he still has mainly deciduous teeth)
> Growth retardation at 11-12 y of age (weight on 25^ centile and height on 10 ^ centile), therefore he did some lab tests and eosinophilia with elevated IgE was noted. He also did hand X-ray and a slight enlargement of phalanges and metacarpal bone was noted.
> 
> When he came to us eosinophils were around 600-700/ul and, at a follow-up shortly after, were raised to 1500/ul. IgE levels were around 7000 kU/L. Ossiuriasis was diagnosed and a proper treatment was done. Specific IgE were anyhow negative. Functional respiratory test revealed broncho-obstruction/asthma and a proper treatment was initiated.
> 
> During nearly one year of follow-up he didn’t suffer of major infections, but his eosinophil count and IgE levels progressively increased (February 2015: eo 2000/ul and IgE around 10.000 kU/L).
> 
> CBC is normal, lymphocyte subsets are normal, memory B and class switched are within normal range but at lower levels (memory 4,3% of CD19 and class switch 8.1% of CD19), Igs levels are normal although I noticed a minor decreased in IgG in the past 6 months (from 950 mg/dl to 860 mg/dl, IgM 130 and IgA 80). We can test only anti-tetanus specific Ab response, which is normal.
> 
> Lymphocyte proliferation came back slightly decreased  (PHA: 73% proliferation and aCD3/28 + IL2: 78% proliferation). TCRvb repertoire looks polyclonal. ANA are negative.
> 
> I was thinking to exclude other parassitosis at first (i.e. Strongyloides stercoralis ), but with slightly impaired T cell proliferation and borderline B memory cells I thought to exclude DOCK8 as well. Any other suggestions?
> 
>  Thank you all in advance for your inputs! Please let me know if you have further questions.
> 
> 
> Best wishes,
> 
> Eleonora
> 
> *******************************************************************
> Eleonora Gambineri, MD
> Researcher/Assistant Professor
> 
> Department of "NEUROFARBA": Section of Child's Health
> University of Florence 
> 
> Department of Haematology-Oncology: BMT Unit
> Department of Fetal and Neonatal Medicine: Rare Diseases,
> "Anna Meyer" Children's Hospital
> 
> Viale Gaetano Pieraccini,24
> 50139 FIRENZE
> ITALY
> Tel +39 055 5662405 <tel:%2B39%20055%205662405> (office)/055 5662606(BMT ward)
> Fax +39 055 4221012 <tel:%2B39%20055%204221012>
> e-mail: eleonora.gambineri at unifi.it <mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it <mailto:e.gambineri at meyer.it>
> ********************************************************************
> 
> 
> 
> 
> 
> ---
> 
> You are currently subscribed to cis-pidd as: olbpet at gmail.com <mailto:olbpet at gmail.com>.
> 
> To unsubscribe click here: http://cts.dundee.net/u?id=96396828.e156bda368069778d849cd6d2771725c&n=T&l=cis-pidd&o=2687837 <http://cts.dundee.net/u?id=96396828.e156bda368069778d849cd6d2771725c&n=T&l=cis-pidd&o=2687837>
> (It may be necessary to cut and paste the above URL if the line is broken)
> 
> or send a blank email to leave-2687837-96396828.e156bda368069778d849cd6d2771725c at lyris.dundee.net <mailto:leave-2687837-96396828.e156bda368069778d849cd6d2771725c at lyris.dundee.net>
> 
> 
> 
> 
> 
> ---
> 
> You are currently subscribed to cis-pidd as: eleonora.gambineri at unifi.it <mailto:eleonora.gambineri at unifi.it>.
> 
> To unsubscribe click here: http://cts.dundee.net/u?id=96396511.a66ca48d1dc2d6c47043b86f63e2e761&n=T&l=cis-pidd&o=2687913 <http://cts.dundee.net/u?id=96396511.a66ca48d1dc2d6c47043b86f63e2e761&n=T&l=cis-pidd&o=2687913>
> (It may be necessary to cut and paste the above URL if the line is broken)
> 
> or send a blank email to leave-2687913-96396511.a66ca48d1dc2d6c47043b86f63e2e761 at lyris.dundee.net <mailto:leave-2687913-96396511.a66ca48d1dc2d6c47043b86f63e2e761 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=2688228
or send a blank email to leave-2688228-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150323/24635582/attachment-0001.html>