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

[Elie Haddad]

Hi Eleonora,
maybe I would consider also PGM3.
All the best
Elie


Elie Haddad, MD, PhD,
Professor of Pediatrics, University of Montreal,
Head, Pediatric Immunology and Rheumatology Division,
CHU Sainte-Justine, 3175 Cote Sainte-Catherine
Montreal, QC, H3T 1C5, Canada
Ph: 1 514 345 4713
fax: 1 514 345 4897
e-mail: elie.haddad at umontreal.ca





> Le 2015-03-23 à 12:56, Nacho Gonzalez <nachgonzalez at gmail.com> a écrit :
> 
> Dear Eleonora,  
> Memory B-cell defects are not uncommon in STAT3 patients. With teeth issues and hypereosinophilia I would focus on STAT3 rather than DOCK8.  
> BW
> 
> Luis Ignacio González Granado
> Immunodeficiencies Unit 
> Hospital 12 octubre 
> Madrid. Spain
> 
> El 23/3/2015 17:40, "Eleonora Gambineri" <eleonora.gambineri at unifi.it <mailto:eleonora.gambineri at unifi.it>> escribió:
> 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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