[CIS PIDD] [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly

Thu Apr 20 11:17:30 EDT 2017

You can measure type 1 inf levels using ip10 (do it in serum and csf). 

If there's a commercial place to do the ifn signature, please let us know. 

Sent from my iPhone

> On 20 Apr 2017, at 11:50, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> Hi Joe,
> They deny consanguinity. First child. For Aicardi-Gouttieres, do you send blood CSF for interferon signature testing somewhere? I can't figure out how to get that done on a clinical basis.
> Best,
> Jordan 
>  
> From: cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
> Sent: Thursday, April 20, 2017 8:32 AM
> To: CIS-PIDD
> Subject: RE: [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly
> 
> Jordan: 
>  
> Is there a possibility of consanguinity?  A microarray may identify regions on non-heterozygosity. 
>  
> Joe Church
>  
> From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
> Sent: Thursday, April 20, 2017 7:19 AM
> To: CIS-PIDD
> Subject: RE: [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly (EXTERNAL EMAIL)
>  
> Dear Nacho,
> JMML is being investigated genetically and through GM-CSF sensitivity testing. I will update with the result. CMV pcr was negative.
> Best,
> Jordan
> From: cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
> Sent: Thursday, April 20, 2017 12:29 AM
> To: CIS-PIDD
> Subject: Re: [cis-pidd] infant with aseptic meningitis, ITP, fever, and hepatosplenomegaly
> 
> Dear Jordan,
> Agree with Markus. Sometimes JMML is unravelled by acute CMV infection in the early postnatal period.
> ATB
> Nacho
>  
> 
> Luis I. Gonzalez-Granado. MD.
> Immunodeficiencies Unit. 
> Hospital 12 de octubre.
> Research Institute Hospital 12 octubre (i+12)   
> Av. Cordoba S/N. 28041. Madrid. Spain
> Tel. 0034606732959 /  0034913908569  /  Fax 0034913908772
> luisignacio.gonzalez at salud.madrid.org
> ORCID ID:  orcid.org/0000-0001-6917-8980
> Researcher ID: B-9257-2009
> ResearchGate:https://www.researchgate.net/profile/Luis_Gonzalez-Granado 
> LinkedIn:  https://es.linkedin.com/in/nachgonzalez
>  
> 2017-04-20 7:13 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:
> Dear all,
> 
> We were called to consult on a now 3-month-old girl with aseptic meningitis and ITP. She had an unremarkable birth history. She initially presented at 10 week old with persistent fever despite being well appearing. After being sent away from 2 ERs, the third ER performed a lumbar puncture with 1000 WBC and no red cells. There was an even spread between PMN, monos, and lymphocytes. Protein mildly elevated and glucose mildly reduced. Bacterial, fungal, mycobacterial, and viral studies have been negative from CSF and blood. Over the past 3 weeks, LP has been repeated twice with similar result. Fevers have been intermittent despite appropriate antibiotic therapy, and clinically she appears well. MRI of the brain and spine have demonstrated leptomeningeal enhancement extending to cervical nerve roots consistent with the CSF findings. There was restricted diffusion in the extra-axial space over the temporal lobes. No basal ganglia calcification identified on head CT or MRI.
> 
> During her admission for the above, she was noted to have mild hepatosplenomegaly by abdominal ultrasound, and then she subsequently developed immune thrombocytopenia with confirmed platelet glycoprotein antibodies detected in her blood. Her platelet count was normal at the time of admission. No other organ disease has been identified. There is no rash, and she has normal growth with normal PO intake and no evidence of enteropathy. She has had temps as high as 101.5 on 3 occasions, and outside of fever, her clinical appearance unremarkable. 
> 
> Initial immune studies have been sent and are copied below:
> WBC 23200 (ANC 4500, AMC2500, ALC 20000, AEC1100) 
> CD19 6475 (44.3%)
> CD8 1768 (12.1%)
> CD4 5320 (36.4%)
> CD3 7118 (48.7%)
> CD16/56 804 (5.5%)
> CD45RO 11.3
> CD45RA 88.1
> 
> IgM (164)
> IgG (689) 
> IgA <40.
> IgE 5
> 
> 
> Bone Marrow showed monocytosis with normal cellularity (reported as 100%) and trilineage hematopoiesis.  No excess blasts or hemophagocytes. Normal cytogenetics.  Additional genetic studies for JMML are pending.
> 
> We are arranging for trio exome sequencing.
> 
> Questions:
> 1. Does the presence of ITP rule out an infectious cause for the meningitis?
> 2. What additional workup would you recommend to assist in diagnosis (much workup was left out for the sake of brevity)?
> 3. Has anyone been in the same or similar situation?
> 4. The marked elevation of all white blood cell lineages suggests widespread dysregulation. We are considering starting corticosteroids. Is there any reason to not do so or to try a different immunosuppressive medication?
> 
> Thanks in advance for your thoughtful responses!
> 
> Jordan
> 
> Jordan Abbott, MD
> National Jewish Health
> 
> 
> 
> 
> 
> NOTICE: This email message is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply email and destroy all copies of the original message.    
> ---
> You are currently subscribed to cis-pidd as: nachgonzalez at gmail.com.
> To unsubscribe click here: http://cts.dundee.net/u?id=96396812.66aedac07f1044b5f6e7c94e3e51e2ac&n=T&l=cis-pidd&o=4330483
> (It may be necessary to cut and paste the above URL if the line is broken)
> or send a blank email to leave-4330483-96396812.66aedac07f1044b5f6e7c94e3e51e2ac at lyris.dundee.net
>  
> ---
> You are currently subscribed to cis-pidd as: abbottj at njhealth.org.
> To unsubscribe click here: http://cts.dundee.net/u?id=96396362.942b93556407b840ab25fd88eee1437a&n=T&l=cis-pidd&o=4330567
> (It may be necessary to cut and paste the above URL if the line is broken)
> or send a blank email to leave-4330567-96396362.942b93556407b840ab25fd88eee1437a at lyris.dundee.net
> 
> NOTICE: This email message is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply email and destroy all copies of the original message.    
> ---
> You are currently subscribed to cis-pidd as: jchurch at chla.usc.edu.
> To unsubscribe click here: http://cts.dundee.net/u?id=96396658.df9245d5219d19fc82ac9f3bbf52c836&n=T&l=cis-pidd&o=4331357
> (It may be necessary to cut and paste the above URL if the line is broken)
> or send a blank email to leave-4331357-96396658.df9245d5219d19fc82ac9f3bbf52c836 at lyris.dundee.net
> CONFIDENTIALITY NOTICE: This e-mail message, including any attachments, 
> is for the sole use of the intended recipient(s) and may contain confidential
> or legally privileged information. Any unauthorized review, use, disclosure
> or distribution is prohibited. If you are not the intended recipient, please
> contact the sender by reply e-mail and destroy all copies of this original message. 
> ---
> You are currently subscribed to cis-pidd as: abbottj at njhealth.org.
> To unsubscribe click here: http://cts.dundee.net/u?id=96396362.942b93556407b840ab25fd88eee1437a&n=T&l=cis-pidd&o=4331417
> (It may be necessary to cut and paste the above URL if the line is broken)
> or send a blank email to leave-4331417-96396362.942b93556407b840ab25fd88eee1437a at lyris.dundee.net
> 
> NOTICE: This email message is for the sole use of the intended recipient(s) and may contain confidential and privileged information. Any unauthorized review, use, disclosure or distribution is prohibited. If you are not the intended recipient, please contact the sender by reply email and destroy all copies of the original message.  
> ---
> You are currently subscribed to cis-pidd as: leonardo.oliveira.mendonca at gmail.com.
> To unsubscribe click here: http://cts.dundee.net/u?id=96396764.5d5926a8e01f475d7bf6717a52d027f0&n=T&l=cis-pidd&o=4331464
> (It may be necessary to cut and paste the above URL if the line is broken)
> or send a blank email to leave-4331464-96396764.5d5926a8e01f475d7bf6717a52d027f0 at lyris.dundee.net

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4331533
or send a blank email to leave-4331533-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170420/a7a20214/attachment-0001.html>