[CIS PIDD] [SUSPECTED MARKETING] [cis-pidd] MTHFR, Pitt Hopkins and Immunodefiency

[Brooks, Edward G]

Dr. Rosenthal,

Your case is very interesting. As you may know, the TCF4 gene mutation may lead to defects in plasmacytoid dendritic cell function and reduced production of interferon-alpha (Cisse, B., et al. (2008). Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development. Cell 135, 37-48.) Specific B- and T-cell developmental abnormalities have not been documented thus far. Some authors have reported reduced IgM levels, but CVID has not been reported. 

We have a center specifically devoted to the evaluation and treatment of patients with Chromosome 18 disorders and a specific program for Pitt-Hopkins Syndrome(PI: Janine Cody, PhD). We would be grateful if you would consider referring your patient to our center website (to www.pediatrics.uthscsa.edu/centers/chromosome18). The family can directly enroll their daughter if they are interested. Our current project involves enrollment and longitudinal medical record review collection. We have an NIH grant pending for clinical evaluations and immunological/neurological assessments.

Sincerely

Ed Brooks

Edward G. Brooks, MD
Eloise Alexander Professor
UT Health Science Center at San Antonio
8403 Floyd Curl Dr. MC 8259
San Antonio, TX 78229
Tel: 210-562-4180
Fax: 210-562-4191



-----Original Message-----
From: David Walter Rosenthal [mailto:drosenthal at lij.edu] 
Sent: Friday, April 24, 2015 1:06 PM
To: CIS-PIDD
Subject: [SUSPECTED MARKETING] [cis-pidd] MTHFR, Pitt Hopkins and Immunodefiency

Hello all…

I have a patient who is a 12 year old female with TCF4 gene mutation (Pitt-Hopkins Syndrome), Homozygous MTHFR mutation (C677T) and CVID phenotype/hypogammaglobulinemia who has recurrent sinus infections requiring rotating antibiotics and tonsillar hypertrophy, vitamin A deficiency.  IgG 412 mg/dl, IgA 21 mg/dl, IgM 18 mg/dl, IgE 10 IU/ml.  Low normal antibody titers.  Relatively normal T/B/NK lymphocyte enumeration with CD19 slightly low (184 cell/ul, 8%).  Normal PHA/PWM proliferation. She has classic symptoms of Pitt-Hopkins including developmental/speech/motor delay, recurrent seizure, craniovertebral instability, hyponatremia.

1)	Based on her low immunoglobulins and recurrent sinopulmonary infections, I would ideally like to give her subcutaneous immunogloblulin, but I am concerned regarding hypercoagulability with patients with MTHFR homozygous mutations and the risk for thromboembolism.  Does anyone have experience in giving IVIG or SQIG to any patient with homozygous MTHFR mutation?  Any recommendations from others?
2)	If anyone else has a patient with Pitt-Hopkins with CVID phenotype/hypogammaglobulinemia, please contact me, I am considering some additional studies and these would benefit from another case or two which have a similar clinical immunophenotype.

Warmly,
David  

--
David Rosenthal, D.O., Ph.D.
Adult, Adolescent and Pediatric Allergy, Asthma, and Clinical Immunology Medical Director, Center for Young Adult, Adolescent and Pediatric HIV Attending Physician, Division of Allergy/Immunology North Shore-LIJ Medical Group
865 Northern Blvd, Suite 101  •  Great Neck, NY  11021
P: 516-622-5070
F: 516-622-5060
E: drosenthal at nshs.edu

Assistant Professor of Medicine and Pediatrics
   Hofstra North Shore-LIJ School of Medicine 

Laboratory of Host Defense
The Feinstein Institute for Medical Research
   P: 516-562-1185        F: 516-562-1107



---
You are currently subscribed to cis-pidd as: brookse at uthscsa.edu.
To unsubscribe click here: http://cts.dundee.net/u?id=96396435.228c0eaeef98bc7ff3afa80a5eeed6d9&n=T&l=cis-pidd&o=2786468
or send a blank email to leave-2786468-96396435.228c0eaeef98bc7ff3afa80a5eeed6d9 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=2791325
or send a blank email to leave-2791325-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net