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

[Richard Wasserman]

We have had several patients diagnosed with thrombophilia because of
thrombosis particularly in the past when some patients had ports. All of
those patients are receiving IGSC and we have not seen any thromboses in
any of our IGSC patients.
Richard Wasserman
Dallas

On Fri, Apr 24, 2015 at 1:05 PM, David Walter Rosenthal <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
>
> 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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-- 
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211

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