[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>
> ********************************************************************
>
>
>
>
>
>
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