[PAGID] possible SCID

[Chinen, Javier]

interesting case. However, based on similar referrals we have seen of Hem/Onc patients, I believe that a SCID variant (with decreased, though significant T and B cells, and significant IgM) presenting with autoimmune picture instead of opportunistic infections, is less likely than a secondary (to cytotoxic drugs) immunodeficiency. I would agree though that BMT may be considered anyway, but not because SCID, but because of autoimmune cytopenia resistant to conventional treatment.
Mitogen proliferative responses would only be meaningful in absence of steroids but also with a significant proportion of T cells in the PBMC fraction.
I would suggest measuring CD45RA CD4 T cells as a more clinically available test than TREC to assess naive T cells, and also repeat IgM. Also I would be sure that HIV was ruled-out with PCR and not plain ELISA. 
Javier

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