[CIS PIDD] [cis-pidd] DGS request for advice

[CIS-PIDD]

You have nicely laid out all the issues facing this child.  As you are aware, the mortality associated with transfusion associated GVHD is EXTREMELY high.  AND- you have tried all the treatments to buy time already.

A few points:

The genetics don’t matter in terms of treatment.  For complete DiGeorge roughly 40% have a 22q deletion, 40% have a CHARGE phenotype and 20% are due to toxins or other exposures.  If it is complete DiGeorge, the child needs a thymus or matched T cells.  The genetic won’t dictate therapy.

Whether the offending cells are autologous or from the transfusion, the therapy is the same.  The only difference is that you might enter into a transplant with more conditioning if it is not autologous.  Good to nail down the chimerism.

Thymus transplants are available in London if that is an option.  To get the point of thymus transplant, pretty heroic efforts will be required to keep the activated T cells damped down enough.  Cyclosporin and ATG chronically seem to be needed.

If thymus is not an option- remember you need to transplant fully matched T cells not stem cells so the transplant is not routine.

Kate Sullivan, MD PhD
Wallace Chair
Chief of Allergy Immunology
ARC 1216 CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363



On May 21, 2017, at 6:47 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:


Dear All,

We are writing to You with request of your opinion about management of the patient:
- boy, born 3-02-2017
- Complete Di George syndrome (all clinical features, genetic pending)
- before diagnosis as PID he was transfused with non-irradiated RBC (during urgent procedure of cardiac surgery)
- two weeks later : skin rush , cytopenia requiring transfusion, respiratory failure, diarrhoea
- suspicion of TA GvHD: confirmation in skin biopsy, but no confirmation in chimerism PCR in blood and skin. Increasing numbers of total T cell and memory T cells ( from almost no T cell up to 400 cells/ul, almost all memory
- CsA, steroids ( pulses, than 1 mg/kg) introduced with little improvement followed by further deterioration of general condition (PH 6,9, oxygen requirement, intensive rush with oedema almost 100% of body, fluid retention)
- ATG (Thymo) given as a salvage therapy ( April 29- May 5, total dose 23,75 mg ; 4,5 mg/kg ) resulting in general clinical improvement, remission of skin inflammation and decreased the numer of T lymphocytes to 78 cells.
- patient’s condition improved - but 4 days after ATG was ended: we observe that the lymphocyte number increases again to almost 500 T cells- still almost all memory pheotype; and there is high eosinophilia present all the time 2500-4000 cells ( 40-50%)
- other complication - pseudomonas colonization and mild renal failure ( increased BUN, diuretics requirement)
Now we discuss what we can do and if we have TA-GvHD or Omenn-like syndrome
- myeloablation with HSCT? - aimed to treat TA GvHD but considering Di George syndrome is it reasonable?
- immediate Tymus TX is not available – but should we consider it in future?
- other immunosuppression? Which?
We are looking forward to hearing from You
Please ask If you need any more detailed information
Kind regards
Katarzyna Drabko and Beata Wolska
BMT Unit Lublin and Immunology Department, CMHI, Warsaw



--
Beata Wolska - Kuśnierz
Oddział Immunologii
IP-CZD
Al.Dzieci Polskich 20
04-730 Warszawa
tel. 22 815 73 85
fax. 22 815 73 82
bwolska at interia.pl<mailto:bwolska at interia.pl>

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