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

Mon Mar 23 20:02:37 EDT 2015

Clinical PGM3 sequencing-
https://www.bcm.edu/research/medical-genetics-labs/test_detail.cfm?testcode=5365

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

On 24 March 2015 at 10:36, Dylan Mordaunt <d.a.mordaunt at gmail.com> wrote:

> 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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