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

Mon Mar 23 18:10:15 EDT 2015

Dear Ele,
All HIES genes are on our HIES-NGS chip.
This is a research test.
Cost 250 EUR thoughŠ
Hit rate currently about 25%; TAT 3-4 months.
Best, Bodo

****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Von:  Eleonora Gambineri <eleonora.gambineri at unifi.it>
Antworten an:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Datum:  Monday 23 March 2015 19:25
An:  CIS-PIDD <cis-pidd at lyris.dundee.net>
Betreff:  Re: [cis-pidd] Hypereosinophilia and hyperIgE

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>:
>> 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 didn¹t 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; e.gambineri at meyer.it
>> ********************************************************************
>> 
>> 
>> 
>> 
>> 
>> 
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