Journal
BLOOD
Volume 117, Issue 2, Pages 688-696Publisher
AMER SOC HEMATOLOGY
DOI: 10.1182/blood-2010-06-292490
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Funding
- National Institutes of Health (NIH) [R01AI47040, R01AI54843, M01RR30]
- Fundacao para a Ciencia e a Tecnologia (FCT)
- Programa Operacional Ciencia e Inovacao [PIC/83068, PTDC/66248]
- Portuguese and French national health services
- FDA
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FOXN1 deficiency is a primary immunodeficiency characterized by athymia, alopecia totalis, and nail dystrophy. Two infants with FOXN1 deficiency were transplanted with cultured postnatal thymus tissue. Subject 1 presented with disseminated Bacillus Calmette-Guerin infection and oligoclonal T cells with no naive markers. Subject 2 had respiratory failure, human herpes virus 6 infection, cytopenias, and no circulating T cells. The subjects were given thymus transplants at 14 and 9 months of life, respectively. Subject 1 received immunosuppression before and for 10 months after transplantation. With follow up of 4.9 and 2.9 years, subjects 1 and 2 are well without infectious complications. The pretransplantation mycobacterial disease in subject 1 and cytopenias in subject 2 resolved. Subject 2 developed autoimmune thyroid disease 1.6 years after transplantation. Both subjects developed functional immunity. Subjects 1 and 2 have 1053/mm(3) and 1232/mm(3) CD(3+) cells, 647/mm(3) and 868/mm(3) CD(4+) T cells, 213/mm(3) and 425/mm(3) naive CD4(+) T cells, and 10 200 and 5700 T-cell receptor rearrangement excision circles per 100 000 CD3(+) cells, respectively. They have normal CD4 T-cell receptor beta variable repertoires. Both subjects developed antigen-specific proliferative responses and have discontinued immunoglobulin replacement. In summary, thymus transplantation led to T-cell reconstitution and function in these FOXN1 deficient infants. (Blood. 2011;117(2):688-696)
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