[CIS PIDD] [cis-pidd] TTC7A deficiency

[Keller, Michael D]

Hi Eleonora,

One has to wonder if a combo transplant (even if from disparate donors) would give you a shot at becoming immunotolerant to the new bowel.  Outcomes in GI transplants are pretty abysmal...

Best regards,
Mike
________________________________
From: Eleonora Gambineri [eleonora.gambineri at unifi.it]
Sent: Sunday, June 16, 2013 12:24 PM
To: CIS-PIDD
Subject: [cis-pidd] TTC7A deficiency

Dear all,

I was asked an opinion on an "urgent" transplant in a newborn affected by TTC7A deficiency. Mutations in the TTC7A gene results in multiple intestinal atresia (impaired gut development) and immunodeficiency. This is a new condition recently described by the Canadian group and there are really few cases in literature. (Ref. Samuels ME, et al.  Exome sequencing identifies mutations in the gene TTC7A in French-Canadian
cases with hereditary multiple intestinal atresia. J Med Genet. 2013 May;50(5):324-9). The only one who received BMT died because of the intestinal conditions.
Our patient has severe watery diarrhea since birth and he underwent surgery several times for his intestinal atresia. He is lymphopenic with in particular low CD8 and B cells (he doesn't loose lymphocytes from intestine). He also has no TRECs. The idea is to try with a haploidentical transplant asap (he doesn't have any MRD) and then with eventually a gut transplant afterward to cure the gut condition. It will surely be a compassionate treatment, but since there are no other options we will try to go for it.
Any of you has treated these patients? Any suggestions on the conditioning regiment? he is infection free and at the moment in relatively good conditions despite the ongoing diarrhea (he is on TPN). We were thinking Treo_Flu and maybe some distal serotherapy.

Any advice is more than welcome!

Thanks.

Best wishes,
Eleonora

*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
********************************************************************






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