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

Mon Mar 23 19:36:15 EDT 2015

The reported PGM3 patients have had normal serum transferrin and
apolipoprotein CIII isoforms and other biochemical parameters don't seem to
have been prospectively discriminative (
http://www.sciencedirect.com/science/article/pii/S0091674914002620 and
http://www.sciencedirect.com/science/article/pii/S0002929714002274). If you
have more advanced glycosylation analysis available to you, such as
MS-based analysis of O- or N-linked glycan analysis this may be helpful.

I would suggest contacting Lynne Wolfe from the NIH or Hudson Freeze from
the Sanford institute. Baylor are the other group who have published a
report who might be able to help. Dirk Lefeber's lab at Nijmegen are
another group closer to you with an interest in CDGs and have reported on
disorders related to other phosphoglucomutase subunits.

Kind regards,

Dylan
Metabolic fellow
The Royal Children's Hospital, Melbourne

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 24 March 2015 at 05:25, Eleonora Gambineri <eleonora.gambineri at unifi.it>
wrote:

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