[CIS PIDD] [cis-pidd] DGS with neuropsychiatric disease

Mon Sep 25 07:20:11 EDT 2017

I do not, but there is no waxing / waning of her symptoms.

Mike

On Sep 24, 2017, at 10:30 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Do you have a reference for the “PANDAS “ markers?

Peter B. Dent MD FRCPC
Professor (emeritus) Pediatrics
Rheumatology & Immunology
McMaster University
905-521-2100 ext 75382
905 521 4968 FAX
905-536-0193 mobile
dentpb at mcmaster.ca<mailto:dentpb at mcmaster.ca>

From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: September-23-17 12:22 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] DGS with neuropsychiatric disease

Dear Michael,

If you considered NMDAR encephalitis, there are other antineuronal antibodies you should also consider, including LGI-1, CASPR2, AMPAR1, AMPAR2 and more.  We have those tests and a full antineuronal antibody panel in my lab.  I would also consider post-streptococcal markers (PANDAS markers) as well given the preceding respiratory infection.  We do not have the PANDAS markers, but Sue Swedo at the NIH would.

Sincerely,

Stan

Stanley J. Naides, M.D., F.A.C.P., F.A.C.R.
Medical Director, Immunology R&D | Interim Scientific Director, Immunology R&D
Quest Diagnostics | Action from Insight | 33608 Ortega Highway| San Juan Capistrano, CA 92675| phone: 949-728-4578| fax: 949-728-7852
stanley.j.naides at QuestDiagnostics.com<mailto:stanley.j.naides at QuestDiagnostics.com>
<image001.jpg>

From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Thursday, September 21, 2017 10:52 AM
To: CIS-PIDD; Naides, Stanley J
Subject: Re: [cis-pidd] DGS with neuropsychiatric disease

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We have seen that in a few teens and adults.

I always wonder abbot the role of the immune system but to date- there is no clear association.

Kate
Sullivan, Kathleen MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363
sullivank at email.chop.edu<mailto:sullivank at email.chop.edu>

On Sep 21, 2017, at 11:22 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear colleagues,

I have a complicated Digeorge patient with severe psychiatric disease, and I would be most grateful for thoughts.

She is a now 18 year old young lady who had longstanding developmental delay, but was functional, active and attended school until age 13 years.  At that time, she had abrupt onset of verbal non-responsiveness shortly after a respiratory infection.  She at times seemed to be responding to internal stimuli.  She had no motor abnormalities.

She was seen by multiple subspecialties across several institutions.  EEG was normal, MRI normal, metabolic workup normal, and testing for NMDAR encephalitis was negative.   She was empirically trialed on IVIG without improvement.  Psychiatry diagnosed her with catatonia and possible schizophrenia and treated her with Abilify and klonopin.  She is now able to follow basic commands and intermittently converses normally, but has gained over 40kg since starting these medications.

Prior immune workup was in keeping with partial Digeorge:
Absolute CD3 count: 1,996 cells per mcL,
absolute CD4 count 1,300.
Absolute CD8 count 633,
absolute CD19 count: 464 cells/mcL,
absolute CD3-CD16+CD56+: 389 cells per mcl
Serum IgG 1,583 mg/dL.  Serum IgM 50.  Serum IgA 197

Is there anything else that we might be missing?  If this is purely early onset schizophrenia, is there any psychiatrist with a strong interest in this population who might be able to help guide therapy?

Thanks so much,
Mike

Michael D. Keller, MD
Assistant Professor, Division of Allergy / Immunology
Center for Cancer and Immunology Research
Jeffrey Modell Diagnostic and Research Center for
Primary Immunodeficiency Disorders
Children's National Health System
111 Michigan Ave NW, M7745A
Washington, DC 20010
Clinic: 202.476.2140
Office: 202.476.5843
Fax: 202.476.2280
www.ChildrensNational.org<http://www.childrensnational.org/>

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