Clinical features, immunoglobulins, and lymphocyte subsets
| Parameter . | Family 1 . | Family 2 . | Normal range . | ||
|---|---|---|---|---|---|
| Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | ||
| Clinical features | |||||
| Sex | Female | Male | Female | Male | |
| Age at presentation | 5 months | 11 months | 7 months | 6 months | |
| Infections | Candida, BCG, | Candida, rotavirus, BCG | Candida | Candida, Klebsiella, cytomegalovirus | |
| Treatment | Ablated, HLA-identical paternal marrow hematopoietic stem cell transplantaion | Ablated, unrelated donor cord blood hematopoietic stem cell transplantation | Ablated, T-cell depleted paternal marrow hematopoietic stem cell transplantation | Ablated, T-cell depleted maternal marrow hematopoietic stem cell transplantation | |
| Outcome | Alive and well | Died 2 months later | Died 1 year later | Died 13 months later | |
| Immunoglobulins (Igs)* | |||||
| IgG | 82 | 712† | 367 | 173 | 192-515 |
| IgA | Low | 0 | 0 | 0 | 12-31 |
| IgM | Low | 0 | 0 | 22 | 39-92 |
| Flow cytometry‡ | |||||
| T and NK cells | |||||
| CD3 | 11 550 (96) | 14 792 (96) | 6861 (81) | 9 118 (82) | 2940-4560 (49-76)¶ |
| CD4 | 8 656 (72) | 12 380 (81) | 5946 (70) | 7 498 (67) | 1860-3360 (31-56)¶ |
| CD8 | 2 881 (24) | 2 458 (16) | 1262 (15) | 1 888 (17) | 720-1440 (12-24)¶ |
| CD28 | 11 118 (93) | 14 792 (96) | 6852 (81) | 9 062 (81) | 3000-4680 (50-78)§ |
| Ti α/β | 11 502 (96) | 14 561 (95) | 6683 (79) | 9 040 (81) | 3480-5040 (58-84)§ |
| Ti γ/δ | 180 (2) | 15 (0) | 42 (1) | 939 (8) | 0-540 (0-9)§ |
| CD16 | 120 (1) | 154 (1) | 644 (8) | 335 (3) | 180-1080 (3-18)§ |
| CD4,CD25bright | 240 (2) | ND | 158 (1.6) | ND | 24-336 (0.4-5.6)§ |
| B cells | |||||
| CD19 | 384 (3) | 461 (3) | 881 (10) | 894 (8) | 840-2220 (14-37)¶ |
| CD20 | 312 (3) | 476 (3) | 813 (10) | 950 (9) | 300-1020 (5-17)§ |
| Switched memory B | 2 (13.3) | ND | 2 (9.2) | ND | 1-224 (22.4-79.4)§ |
| Activation | |||||
| CD45 | 11 994 (100) | 15 345 (100) | 8428 (100) | 10 526 (94) | 5520-6000 (92-100)§ |
| CD45RO,CD3 | 1 063 (9) | 59 (0) | 521 (8) | 27 (0) | 177-1140 (6-25)¶ |
| CD45RA,CD3 | 9 783 (85) | 14 274 (97) | 6360 (93) | 8 589 (94) | 441-2006 (15-44)§ |
| CD45RA,CD3,CD62L | 8 697 (75.3) | ND | 6237 (90.9) | ND | 338-2513 (11.5-55.1)§ |
| Parameter . | Family 1 . | Family 2 . | Normal range . | ||
|---|---|---|---|---|---|
| Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . | ||
| Clinical features | |||||
| Sex | Female | Male | Female | Male | |
| Age at presentation | 5 months | 11 months | 7 months | 6 months | |
| Infections | Candida, BCG, | Candida, rotavirus, BCG | Candida | Candida, Klebsiella, cytomegalovirus | |
| Treatment | Ablated, HLA-identical paternal marrow hematopoietic stem cell transplantaion | Ablated, unrelated donor cord blood hematopoietic stem cell transplantation | Ablated, T-cell depleted paternal marrow hematopoietic stem cell transplantation | Ablated, T-cell depleted maternal marrow hematopoietic stem cell transplantation | |
| Outcome | Alive and well | Died 2 months later | Died 1 year later | Died 13 months later | |
| Immunoglobulins (Igs)* | |||||
| IgG | 82 | 712† | 367 | 173 | 192-515 |
| IgA | Low | 0 | 0 | 0 | 12-31 |
| IgM | Low | 0 | 0 | 22 | 39-92 |
| Flow cytometry‡ | |||||
| T and NK cells | |||||
| CD3 | 11 550 (96) | 14 792 (96) | 6861 (81) | 9 118 (82) | 2940-4560 (49-76)¶ |
| CD4 | 8 656 (72) | 12 380 (81) | 5946 (70) | 7 498 (67) | 1860-3360 (31-56)¶ |
| CD8 | 2 881 (24) | 2 458 (16) | 1262 (15) | 1 888 (17) | 720-1440 (12-24)¶ |
| CD28 | 11 118 (93) | 14 792 (96) | 6852 (81) | 9 062 (81) | 3000-4680 (50-78)§ |
| Ti α/β | 11 502 (96) | 14 561 (95) | 6683 (79) | 9 040 (81) | 3480-5040 (58-84)§ |
| Ti γ/δ | 180 (2) | 15 (0) | 42 (1) | 939 (8) | 0-540 (0-9)§ |
| CD16 | 120 (1) | 154 (1) | 644 (8) | 335 (3) | 180-1080 (3-18)§ |
| CD4,CD25bright | 240 (2) | ND | 158 (1.6) | ND | 24-336 (0.4-5.6)§ |
| B cells | |||||
| CD19 | 384 (3) | 461 (3) | 881 (10) | 894 (8) | 840-2220 (14-37)¶ |
| CD20 | 312 (3) | 476 (3) | 813 (10) | 950 (9) | 300-1020 (5-17)§ |
| Switched memory B | 2 (13.3) | ND | 2 (9.2) | ND | 1-224 (22.4-79.4)§ |
| Activation | |||||
| CD45 | 11 994 (100) | 15 345 (100) | 8428 (100) | 10 526 (94) | 5520-6000 (92-100)§ |
| CD45RO,CD3 | 1 063 (9) | 59 (0) | 521 (8) | 27 (0) | 177-1140 (6-25)¶ |
| CD45RA,CD3 | 9 783 (85) | 14 274 (97) | 6360 (93) | 8 589 (94) | 441-2006 (15-44)§ |
| CD45RA,CD3,CD62L | 8 697 (75.3) | ND | 6237 (90.9) | ND | 338-2513 (11.5-55.1)§ |
BCG, Bacillus Calmette-Guerin; ND, not done.
Values are expressed as milligrams per deciliter.
The patient was receiving immunoglobulin replacement.
Values are expressed as cells per cubic millimeter or (percentage of lymphocytes).
Normal values are the 95% confidence intervals for ninety 6- to 12-month-old healthy control subjects.21
Normal values are the 95% confidence intervals for 2338 healthy adult control subjects from the authors’ laboratory.