Immunologic phenotypes of 7 JAK3-deficient SCID patients at presentation
. | Patient no. . | . | . | . | . | . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | Mean ± SD† . | Controls . | ||||||
| Lymphocyte subset* | |||||||||||||||
| CD3+ | 204 | 0 | 8268 | 15 | 147 | 31 | 31 | 1242 ± 3098 | 1014-5784 | ||||||
| CD20+ | 2592 | 936 | 1633 | 2066 | 2675 | 1396 | 629 | 1704 ± 786 | 121-1072 | ||||||
| CD16+ | 29 | 0 | 204 | 15 | 29 | 31 | 22 | 47 ± 70 | 87-1189 | ||||||
| Serum Ig level‡ | |||||||||||||||
| IgG§ | 0 | 29 | 0 | 598 | 801 | 540 | 198 | 309 ± 331 | 192-515 | ||||||
| IgA | 0 | 0 | 16 | 0 | 0 | 7 | 0 | 3 ± 6 | 12-31 | ||||||
| IgM | 50 | 22 | 32 | 21 | 21 | 20 | 239 | 58 ± 81 | 39-92 | ||||||
| Proliferative stimulus∥ | |||||||||||||||
| Medium | 632 | 446 | 210 | 961 | 2240 | 240 | 1246 | 853 ± 718 | 693 ± 825 | ||||||
| PHA | 8221 | 592 | 10 287 | 1755 | 60 682 | 265 | 3673 | 12 211 ± 21 714 | 222 330 ± 50 643 | ||||||
| ConA | 12 357 | 976 | 5090 | 1635 | 8498 | 410 | 1374 | 4334 ± 4564 | 208 534 ± 52 592 | ||||||
| PWM | 2621 | 727 | 6729 | 2628 | 3726 | 509 | 2011 | 2707 ± 2100 | 135 520 ± 35 077 | ||||||
| Autologous cells | 11 191 | 1684 | 2228 | 1291 | 2930 | 164 | 465 | 2850 ± 3800 | 3163 ± 2874 | ||||||
| Allogeneic cells | 15 337 | 8588 | 2593 | 2204 | 12 727 | 1740 | 1104 | 6328 ± 5866 | 59 818 ± 38 445 | ||||||
. | Patient no. . | . | . | . | . | . | . | . | . | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
. | 1 . | 2 . | 3 . | 4 . | 5 . | 6 . | 7 . | Mean ± SD† . | Controls . | ||||||
| Lymphocyte subset* | |||||||||||||||
| CD3+ | 204 | 0 | 8268 | 15 | 147 | 31 | 31 | 1242 ± 3098 | 1014-5784 | ||||||
| CD20+ | 2592 | 936 | 1633 | 2066 | 2675 | 1396 | 629 | 1704 ± 786 | 121-1072 | ||||||
| CD16+ | 29 | 0 | 204 | 15 | 29 | 31 | 22 | 47 ± 70 | 87-1189 | ||||||
| Serum Ig level‡ | |||||||||||||||
| IgG§ | 0 | 29 | 0 | 598 | 801 | 540 | 198 | 309 ± 331 | 192-515 | ||||||
| IgA | 0 | 0 | 16 | 0 | 0 | 7 | 0 | 3 ± 6 | 12-31 | ||||||
| IgM | 50 | 22 | 32 | 21 | 21 | 20 | 239 | 58 ± 81 | 39-92 | ||||||
| Proliferative stimulus∥ | |||||||||||||||
| Medium | 632 | 446 | 210 | 961 | 2240 | 240 | 1246 | 853 ± 718 | 693 ± 825 | ||||||
| PHA | 8221 | 592 | 10 287 | 1755 | 60 682 | 265 | 3673 | 12 211 ± 21 714 | 222 330 ± 50 643 | ||||||
| ConA | 12 357 | 976 | 5090 | 1635 | 8498 | 410 | 1374 | 4334 ± 4564 | 208 534 ± 52 592 | ||||||
| PWM | 2621 | 727 | 6729 | 2628 | 3726 | 509 | 2011 | 2707 ± 2100 | 135 520 ± 35 077 | ||||||
| Autologous cells | 11 191 | 1684 | 2228 | 1291 | 2930 | 164 | 465 | 2850 ± 3800 | 3163 ± 2874 | ||||||
| Allogeneic cells | 15 337 | 8588 | 2593 | 2204 | 12 727 | 1740 | 1104 | 6328 ± 5866 | 59 818 ± 38 445 | ||||||
PHA indicates phytohemagglutinin; ConA, concanavalin A; and PWM, pokeweed mitogen.
Values are expressed as lymphocytes per cubic millimeter. Control values are the 95% confidence intervals for 167 control subjects.
For patient values.
Values are expressed as milligrams per deciliter. Normal values are the 95% confidence intervals for 12 6-month-old control subjects.
Patients 5 and 6 were receiving intravenous immune globulin (IVIG) when IgG levels were measured. Transferred maternal antibody contributed to the observed serum IgG level in 16-day-old patient 4.
Values are counts per minute [3H]thymidine incorporation. Control values are the mean ± SD of responses in 167 control subjects.