[CIS PIDD] [cis-pidd] Immunosuppression in APECED?

[CIS-PIDD]

Dear All,

I am following a 17 year old boy with 2 mutations in AIRE (c.789C>T,
heterozygous nonsense and c.967_979, deletion codon 323:327) who has
hypothyroidism, addison's, hypoparathyroidism, pernicious anemia,
pancreatic insufficiency, alopecia, blindness secondary to limbic stem cell
deficiency, hypogammaglobulinemia and poor weight gain. He has very poor
quality of life (according to him). He is no longer in school and is
half-heartedly trying for his GED. He has low energy and has eye pain on a
daily basis. He is feeling quite desperate for something to change.

I have seen some case reports of people with APECED being treated with
immunosuppression. Has anyone here tried this? What kind of response did
the patients have? His ophthalmologist is considering a limbic stem cell
transplant for his eyes which would require him to be on tacrolimus and MMF.

Thanks.

-Evan


*Evan Shereck, MD, MEd*

Associate Professor of Pediatrics

Director, Pediatric Hematology/Oncology Fellowship

Block Co-Director, Blood and Host Defense

Oregon Health & Science University I  3181 SW Sam Jackson Park Rd, Mail
Code: CDRCP  I  Portland, OR 97239

(Office): 503-494-0829  I  (Fax): 503-494-0714

 (E-mail): shereck at OHSU.edu
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