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. 2015 Jan 28;35(2):135–146. doi: 10.1007/s10875-014-0125-1

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