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

Thu Sep 21 16:48:23 EDT 2017

Thanks Javier and Cecilia.  I will reach out to these groups.

Mike

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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, September 21, 2017 4:42 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] DGS with neuropsychiatric disease

Hi Mike,

I believe Anne Basset in Toronto has the largest adult cohort. Maybe it would be a good idea to contact her: Anne.bassett at utoronto.ca<mailto:Anne.bassett at utoronto.ca>

Best,

Cecilia Poli MD

On Thu, Sep 21, 2017 at 10:22 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

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