[CIS PIDD] [cis-pidd] HSCT consideration for CID/Variant SCID

[Heimall, Jennifer]

Yes, I would. I think you are right that this is consistent with an atypical SCID. You could consider whole exome sequencing as there are few known mutations missed by the gene ex comprehensive panel but I would not wait for that result before transplant with the worsening T cell numbers, low B cells and poor PHA stim.
You might consider also getting a radio sensitivity assay completed before the transplant since this is a t/b negative phenotype.

Hope the patient does well!
Jen


Sent from my iPhone

On Sep 24, 2014, at 10:30 PM, "Joshi, Avni Y., M.D." <Joshi.Avni at mayo.edu<mailto:Joshi.Avni at mayo.edu>> wrote:

Dear Colleagues,
We seeking your input for consideration of HSCT in a 3 month old female infant who was picked up via the NBS for SCID in MN.

She has shown evidence of :
T cell lymphopenia ( CD3 -1100-1200 cells/mcL)
B cell lymphopenia (34 cells/mcL)
NK lymphocytosis ( 1400cells/mcL)
with decreased thymic output(67% express CD45RA)and TREC at 2 wks age.

Sequential T cell measurement has shown declining T cell numbers ( CD3:900cells/mcL) and decreasing CD45RA expression(~50%). Chimerism studies have shown all T cells to be of her own. Her TCR-vb spectratyping has shown gaussian distribution without any oligo-clonality.
B and NK cell counts have been stable.
Immunoglobulins:    IgA =2 mg/dL and IgM =12 mg/dL    IgG was normal .

Lymphocyte proliferation assay has showed very significantly decreased proliferation to PHA (Max proliferation --12% for CD3 and 6.5% for CD45).

She is now 3 months old and we have found a 10/10 matched  unrelated donor.
She is doing well on monthly IVIG, Bactrim and fluconazole prophylaxis. No rash or organomegaly.
Comprehensive SCID panel (Gene Dx) has come back negative.

She fits the picture of variant SCID or CID.

Would you proceed with HSCT?

Thank you for your input,

Sincerely,
Avni


Avni Y Joshi, MD, MSc
Mayo Clinic
Rochester MN







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