X-linked severe combined immunodeficiency patients
| Patient . | IL2RG mutation . | Cell-surface γc protein . | Haploidentical T- cell–depleted BMT treatment and outcome . | Lymphocyte function . | Chimerism (% donor) . | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| ALC, × 109/L (cells/μL) . | Mitogens* . | Ig† . | T . | B . | G . | CD34+ . | ||||
| Pt 1‡ | Gln235X | — | 2 BMTs at 8 mo, 8 y; on Ig, antibiotics, steroids (for hepatitis) | N | N | — | 100 | 5 | 0 | 0 |
| Pt 2 | Poly(A) addition site | — | 4 BMTs over 5 y; on Ig, antibiotics; chronic diarrhea | .05-2.0 (50-200) | Low1-153 | — | 0 | 0 | 0 | 0 |
| Pt 3 | Arg289X | + truncated | 2 BMTs at 12 mo, 5 y; on Ig, antibiotics | 6.0 (600) | Low1-153 | — | 100 | 0 | 0 | 0 |
| Pt 4 | Ala309 frameshift | + truncated | 1 BMT age 9 mo; on Ig, steroids (for autoimmune hemolytic anemia) | N | N | — | 100 | 0 | 0 | 0 |
| Patient . | IL2RG mutation . | Cell-surface γc protein . | Haploidentical T- cell–depleted BMT treatment and outcome . | Lymphocyte function . | Chimerism (% donor) . | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| ALC, × 109/L (cells/μL) . | Mitogens* . | Ig† . | T . | B . | G . | CD34+ . | ||||
| Pt 1‡ | Gln235X | — | 2 BMTs at 8 mo, 8 y; on Ig, antibiotics, steroids (for hepatitis) | N | N | — | 100 | 5 | 0 | 0 |
| Pt 2 | Poly(A) addition site | — | 4 BMTs over 5 y; on Ig, antibiotics; chronic diarrhea | .05-2.0 (50-200) | Low1-153 | — | 0 | 0 | 0 | 0 |
| Pt 3 | Arg289X | + truncated | 2 BMTs at 12 mo, 5 y; on Ig, antibiotics | 6.0 (600) | Low1-153 | — | 100 | 0 | 0 | 0 |
| Pt 4 | Ala309 frameshift | + truncated | 1 BMT age 9 mo; on Ig, steroids (for autoimmune hemolytic anemia) | N | N | — | 100 | 0 | 0 | 0 |
BMT indicates bone marrow transplantation; ALC, absolute (peripheral) lymphocyte count; Ig, immunoglobulin; G, granulocytes; Pt, patient; N, normal (as compared with age-matched healthy subjects); poly(A), poly(adenylic acid).
Proliferation to phytohemagglutinin, concanavalin A, and pokeweed mitogen.
Maintenance of normal immunoglobulin levels without supplemental IgG.
X-linked severe combined immunodeficiency patient mutations 1, 3, and 4, previously published.54 55
Less than 50% of mean for healthy subjects.