[CIS PIDD] [cis-pidd] Neutropenia and low interferon gamma production

Thu Sep 4 17:48:22 EDT 2014

I would consider G6PC3 mutation which can be seen in nonsyndromic
neutropenia and may be associated with lymphopenia.
Yesim

Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
395 Broadway Rm 107N
New York, NY 10032
phone: (212) 305 2300

On Thu, Sep 4, 2014 at 5:25 PM, Wilmer Cordova Calderon <
wilmer.cordova at gmail.com> wrote:

>  the CD4  CD8 NK CD19 was normal?
> We have a similar case neutropenia but AMO was normal, no maduration
> arrest. He recived FSC GM filgastrim with low answer. but present
> lymphopenia
>
>    *HEMOGRAMA*
>
> 19/07/14
>
> 21/07/14
>
> 29/07/14
>
> 3/08/14
>
> 4/08/14
>
> *LEUCOS*
>
> 1530/mm3
>
> 1120/mm3
>
> 1100/mm3
>
> 9900/nn3
>
> 3610/mm3
>
> *ABAST*
>
> 0%
>
> 0%
>
> 1%
>
> 4%
>
> 0%
>
> *SEGM*
>
> 49%
>
> 7%
>
> 22%
>
> 88%
>
> 76%
>
> *LINFOCITOS*
>
> 48% 720
>
> 87% 957
>
> 75% 825
>
> 8% 792
>
> 16% 576
>
> *MONOCITOS*
>
> 3%
>
> 5%
>
> 2%
>
> --
>
> 6%
>
> *HTO*
>
> 32%
>
> 33%
>
> 30%
>
> 30%
>
> 33%
>
> *HB*
>
> 9.9gr/dl
>
> 10.6gr/dl
>
> 9.2gr/dl
>
> 9.6gr/dl
>
> 10.3gr/dl
>
> *PLAQUETAS*
>
> 484000/mm3
>
> 514000/mm3
>
> 371000/mm3
>
> 450000/mm3
>
> 401000/mm3
>
>
>
> *RECUENTO ABSOLUTO*
>
> *VALORES REFERENCIALES*
>
> *LINFOCITOS TCD3+*
>
> 509
>
> 900 A 5400cel/ul
>
> *LINFOCITOS T CD3   CD4*
>
> 85
>
> 500 a 2400cel/ul
>
> *LINFOCITOS T CD3    CD8*
>
> 274
>
> 300 a 1600 cel/ul
>
> *RELACION CD4/CD8*
>
> 0.31
>
> 0.9 a 2.9
>
> *% CD4+ DE LINFOCITOS T*
>
> 17
>
>
>
> *% CD8+ DE LINFOCITOS T*
>
> 54
>
>
>
> *LINFOCITOS B  CD19+*
>
> 284
>
> 200 a 2100 cel/ul
>
> *NK CD56/16*
>
> 114
>
> 100 a 1000cel/ul
>
> *LINFOCITOS TOTALES*
>
> 941
>
>
>
> *LEUCOCITOS TOTALES (CD45+)*
>
> 1583
>
>
>
> *Globulinas*
>
> 2.8gr/dl
>
> *Ig A*
>
> 114mg/dl
>
> *Ig G*
>
> 1068mg/dl
>
> *Ig M*
>
> 82mg/dl
>
>
> 2014-09-04 9:00 GMT-05:00 Wiens, Lynn A MD <lawiens at saintfrancis.com>:
>
>>  I am taking care of a 2 yo male with idiopathic neutropenia doing well
>> on Neupogen.  As part of his work-up, I obtained T-cell function and PHA
>> did upregulate CD 69 but there was no interferon gamma production.  In vitro
>> proliferation to tetanus toxoid, viral mixture, candida was low.
>> Response to PWM; staph superantigen was normal.
>>
>> My question is what additional genetic testing is indicated in a boy
>> doing well with neupogen; no additional infections since starting.
>>
>> Lynn A. Wiens, MD
>>
>> Warren Clinic
>>
>> 6160 South Yale Avenue  Tulsa, OK 74136
>>
>> Specializing in the care of Allergy, Asthma, Sinus disease, and Chronic
>> Infections
>>
>> *http://tulsaallergynews.com* <http://tulsaallergynews.com/>
>>
>> Office: 918-495-2636
>>
>> Cell: 918-550-1200
>>
>> [image: Picture (Device Independent Bitmap)]
>>
>>  ------------------------------
>>
>>
>> Saint Francis Health System intends this email only for the use of the
>> person to whom it is addressed and may contain information that is
>> privileged, confidential, and exempt from disclosure under applicable law.
>> If you have received this email in error, you are hereby notified that we
>> do not consent to any reading, dissemination, distribution, or copying of
>> this email and request you notify the sender immediately and destroy this
>> transmission. Violators may be prosecuted under Federal law.
>>
>> ---
>>
>> The CIS-PIDD listserv is supported by:
>>
>>
>> *The science & practice of human immunology*
>>
>> P: +1.414.224.8095
>> E: info at clinimmsoc.org
>>
>> Not a member of CIS? Please visit www.clinimmsoc.org
>> <https://cis.execinc.com/edibo/Signup> to join!
>>
>> You are currently subscribed to cis-pidd as: wilmer.cordova at gmail.com.
>> To unsubscribe click here:
>> http://lm.clinimmsoc.org/u?id=183824409.d0117767c65eb8429cca12f1ece10166&n=T&l=cis-pidd&o=45440581
>>
>
>
>
> --
>  *Atte *
> Wilmer Córdova
> *Inmunología Alergología*
> *Instituto Nacional de Salud del Niño - Perú*
> http://www.isn.gob.pe
> wcordova at insn.gob.pe
> facebook.com/wilmer.cordova.71
> twitter: @wilmer_cordova
>
> ---
>
> The CIS-PIDD listserv is supported by:
>
>
> *The science & practice of human immunology*
>
> P: +1.414.224.8095
> E: info at clinimmsoc.org
>
> Not a member of CIS? Please visit www.clinimmsoc.org
> <https://cis.execinc.com/edibo/Signup> to join!
>
> You are currently subscribed to cis-pidd as: dryesimyilmaz at gmail.com.
> To unsubscribe click here:
> http://lm.clinimmsoc.org/u?id=190894908.6076a8fe7beb8b98417225f54ae97d80&n=T&l=cis-pidd&o=45442664
>
>

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45442738
or send a blank email to leave-45442738-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/pipermail/pagid/attachments/20140904/1607050c/attachment-0001.html>