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

[Dylan Mordaunt]

Dear David,

I wouldn't worry about that MTFHR variant-

http://www.acmg.net/docs/MTHFR_gim2012165a_Feb2013.pdf

Kind regards,

Dylan

sent from my phone
On 25/04/2015 4:06 AM, "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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