[CIS PIDD] [cis-pidd] Mild neutropenia, recurrent skin infections, allergy, lymphadenopathy

[Eleonora Gambineri]

It wasn't going below 1500. No I didn't check G6PC3, but I could.
Cheers
Ele
On 27/giu/2013, at 17:27, "Rosenzweig, Sergio (NIH/NIAID) [E]" <srosenzweig at niaid.nih.gov> wrote:


> Hi Ele,

> What was the lowest ANC detected? Did you check for G6PC3?

> We keep in touch,

> Sergio

> 

> Sergio D. Rosenzweig, MD, PhD

> Chief, Infectious Diseases Susceptibility Unit, LHD, NIAID, NIH

> 10 Center Dr, Bldg. 10 CRC 6W-3750, Bethesda, MD 20892

> Phone 301 451 8971

> Fax 301 451 7901

> Cell 240 361 7617

> Beeper 102 10678

> srosenzweig at niaid.gov

> 

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> From: Eleonora Gambineri <eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>>

> Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>

> Date: Thursday, June 27, 2013 10:02 AM

> To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>

> Subject: [cis-pidd] Mild neutropenia, recurrent skin infections, allergy, lymphadenopathy

> 

> Dear all,

> 

> I would like your inputs on a tricky case. Please see below.

> 

> 11 y/o boy  (born in 2002)

> At birth he was diagnosed with patent foramen ovale and patent ductus arteriosus, not hemodynamically significant. Spontaneous closure at 20 months of age (last checked 6 years old).

> Allergy: Allergic to peanuts (had 2 episodes of anaphylactic shock in 2005), milk and egg (oral allergy syndrome and abdominal pain is reported), inhalants (Dermatophagoides, Alternaria, etc). He follows a diet without milk and dairy products, eggs and nuts.

> GI tract: in the early years of life he was diagnosed with gastroesophageal reflux. However the  PH-metry resulted normal. From about 2 years complains recurrent abdominal pain on a daily basis, which occur several times during the day, mainly after meals, already present upon awakening, and that can not be solved with the evacuation. Evaluated several times by the physician who has encountered gas. Alvo reported regular daily, sometimes with incomplete emptying.

> Infections: at 2y/o, for the presence of chronic lateral cervical lymphadenopathy and the frequent finding of low levels of neutrophils, (ca 1500-2000/mm3). Cyclic neutropenia was ruled out. Neutrophil function test was normal. Infectious mononucleosis at 3 years of life. He has been suffering from  numerous episodes of periungual infection and skin abscesses when gets minor injuries. Two recent episodes of pneumonia with bronchospasm (8y/o) and asthma-related episodes of bronchitis. He had a tooth abscess on residual deciduous tooth (reported a delay in dental exchange) and numerous cavities.

> Recent immunology w/up:

> Neutrophils low-ish (1737/μL)

> Igs normal (IgG2 at lower levels), total IgE 382 kU/L ,  Ab anti tet present

> Lympho subsets normal/proliferation normal

> NBT test normal

> ANA negative

> tTG and AGA negative

> STAT3 sequence: wild type

> 

> Recently he underwent surgery to remove a suspected submental cyst that turned out to be an inflamed lymph node (histology report not available).

> I would feel to explore a bit more on the innate immunity side.

> Any suggestions?

> 

> Your inputs are highly appreciated.

> 

> Best wishes,

> Ele

> 

> *******************************************************************

> 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<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>

> ********************************************************************

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