Table 1.
Clinical course, indicating infections, autoimmune manifestations, treatments (in italics) and times at which samples were obtained for study
Age | Clinical manifestation |
---|---|
1–3 months | Bloody stool, erythroderma (later biopsy showing lymphocyte infiltration) |
9 months | Poor growth (<5 % weight, 5 % height), hospitalization for prolonged fever, presumed bacterial infections responding to systemic antibiotics; S. aureus superinfection of rash |
10 months | IgG infusions instituted |
13 months | Thrush, candida esophagitis |
Continuous antibiotic prophylaxis started | |
DNA isolated from PBMCs, later used for whole exome sequencing | |
15 months | Persistent CMV >3,000 copies by PCR from blood, lung washings despite gancyclovir and foscarnet treatment; ground glass pneumonitis; self limited RSV bronchiolitis; diarrhea with C. difficile |
18 months | Hematopoietic cell transplant from 9/10 HLA matched unrelated donor |
19 months | Rash resolved, donor T cells detected; no graft vs. host disease |
23 months | Graft vs. host disease prophylaxis discontinued |
Lymphocyte proliferation to PHA >50 % normal, persistent CMV viremia 1,500 copies | |
PBMCs isolated, separated into autologous patient and donor populations for in vitro functional studies | |
28 months | Antibiotic prophylaxis discontinued |
30 months | Donor T cell infusion for persistent CMV viremia |
CMV viremia resolved, gaining weight (25 % for age) | |
6 years | Donor B cell function detected with normal IgM and IgA, positive IgM isohemagglutinin |