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

[Peter Olbrich]

The only patients I have seen was at the NIH.maybe you want to talk to Amy
hsu in Steve Hollands lab?
Not sure about shipping/costs though....


El lunes, 23 de marzo de 2015, Eleonora Gambineri <
eleonora.gambineri at unifi.it> escribió:

> 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
> <javascript:_e(%7B%7D,'cvml','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
> <javascript:_e(%7B%7D,'cvml','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 (office)/055 5662606(BMT ward)
>> Fax +39 055 4221012
>> e-mail: eleonora.gambineri at unifi.it
>> <javascript:_e(%7B%7D,'cvml','eleonora.gambineri at unifi.it');>;
>> e.gambineri at meyer.it
>> <javascript:_e(%7B%7D,'cvml','e.gambineri at meyer.it');>
>> ********************************************************************
>>
>>
>>
>>
>>
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