[CIS PIDD] [cis-pidd] TTC7A deficiency

[Elena Hsieh]

We had a patient identified with this mutation in July of last year.  The patient had all the clinical features of trichohepatic enteric syndrome, with neonatal onset of intractable diarrhea, dysmorhic, TPN dependent, and failed to improve on steroids, tacrolimus and siroliimus.  We were initially consulted on this patient for confer for IPEX, given that intractable diarrhea, and his low number of Tregs.  He was also fairly lymphopenic.  He unfortunately died before further therapy, but we thought that gut transplant would be even more helpful than BMT.  There is not very much data in the literature regarding the outcome of this condition, but in a previous discussion chain regarding this diagnosis it seems that if the patient can get through young childhood, they can have a fairly normal development into teenage hood and young adulthood (albeit with abnormal stools).

We also have another patient with similar symptoms, but the diarrhea is actually bloody and she has arthritis as well.  She is undergoing a double BMT and gut transplant, but I also think that outcome for gut transplants is rather abysmal.

Elena

On Jun 16, 2013, at 9:24 AM, Eleonora Gambineri <eleonora.gambineri at unifi.it> wrote:


> 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; e.gambineri at meyer.it

> ********************************************************************

> 

> 

> 

> 

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