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

Eleonora Gambineri eleonora.gambineri at unifi.it
Tue Mar 24 11:26:15 EDT 2015


Thank you all for your suggestions!
Best
Ele
*******************************************************************
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 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************


----- Messaggio da KBoztug at cemm.oeaw.ac.at ---------
     Data: Mon, 23 Mar 2015 19:25:40 +0000
       Da: Kaan Boztug <KBoztug at cemm.oeaw.ac.at>
Rispondi-A:CIS-PIDD <cis-pidd at lyris.dundee.net>
  Oggetto: Re: [cis-pidd] Hypereosinophilia and hyperIgE
        A: CIS-PIDD <cis-pidd at lyris.dundee.net>


> Hi eleonora we would do free of charge for our Research   
> collaboration If You like
>
> Thanks
>
> K
>
> Sent from my iPhone. Please excuse any terseness or typos.
>
>
> Am 23.03.2015 um 20:33 schrieb Eleonora Gambineri   
> <eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>>:
>
> 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<mailto: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
>
> (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
>
> (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:   
> kboztug at cemm.oeaw.ac.at<mailto:kboztug at cemm.oeaw.ac.at>.
>
> To unsubscribe click here:   
> http://cts.dundee.net/u?id=96396722.083adbad1aaa0b9b2751612eddbcd0cb&n=T&l=cis-pidd&o=2688228
>
> (It may be necessary to cut and paste the above URL if the line is broken)
>
> or send a blank email to   
> leave-2688228-96396722.083adbad1aaa0b9b2751612eddbcd0cb at lyris.dundee.net<mailto:leave-2688228-96396722.083adbad1aaa0b9b2751612eddbcd0cb at lyris.dundee.net>
>
> ---
> You are currently subscribed to cis-pidd as: eleonora.gambineri at unifi.it.
> To unsubscribe click here:   
> http://cts.dundee.net/u?id=96396511.a66ca48d1dc2d6c47043b86f63e2e761&n=T&l=cis-pidd&o=2688487
> or send a blank email to   
> leave-2688487-96396511.a66ca48d1dc2d6c47043b86f63e2e761 at lyris.dundee.net


----- Fine del messaggio da KBoztug at cemm.oeaw.ac.at -----




---
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=2691820
or send a blank email to leave-2691820-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net


More information about the PAGID mailing list