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

[Kumar, Ashish]

Before committing to IVIG replacement, I recommend challenging her with polysaccharide vaccine to see if she responds.
Ashish

From: Dylan Mordaunt [mailto:d.a.mordaunt at gmail.com]
Sent: Friday, April 24, 2015 6:58 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] MTHFR, Pitt Hopkins and Immunodefiency


Dear David,

I wouldn't worry about that MTFHR variant-

http://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.acmg.net_docs_MTHFR-5Fgim2012165a-5FFeb2013.pdf&d=AwMFaQ&c=P0c35rBvlN7D8BNx7kSJTg&r=7_Xi_iO9LJTHr-vy99jYOfSlhgVB29ez3xj6iG4Kpn0&m=sFB_3TakmMMTmfjp7kg7JGqEl1ffDzYqN5Ni1Flc8yE&s=dqHa75mhqUganVqBRkZg8tERgqvUKy_oViHqt3v75GQ&e=>

Kind regards,

Dylan

sent from my phone
On 25/04/2015 4:06 AM, "David Walter Rosenthal" <drosenthal at lij.edu<mailto:drosenthal at lij.edu>> wrote:
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<mailto: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



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