Patient characteristics
| . | Family 1 . | Family 2 . | Family 3 . | Family 4 . | Family 5 . | Family 6 . | Family 7 . | ||
|---|---|---|---|---|---|---|---|---|---|
| No. 1 . | No. 1 . | No. 1 . | No. 1 . | No. 2 . | No. 1 . | No. 1 . | No. 2 . | No. 1 . | |
| Sex (y of birth) | Male (1992) | Male (2002) | Male (1998) | Male (1992) | Male (1994) | Male (2002) | Female (1993)† | Female (1993)† | Male (2005) |
| First symptoms | Skin infection | Skin infection, petechiae | CNS bleeding | Omphalitis | Nose bleeding | Omphalitis CNS bleeds and anemia | TF-dep anemia | Anorectal fistula | Sepsis mucosal and skin bleeding |
| Average no. infections/y | 2, perianal abscesses | 7-8 (1st y), perianal abscesses | 6 | 4 | 2 | 3-4, perianal abscesses | 1 | 2 | 4 |
| Bacterial | Y | Y | Y | Y | Y | Y | Y | Y | Y |
| Viral | N | N | N | N | NA | (CMV) | N | N | (CMV) |
| Fungal | Presumed | Candida albicans | Aspergillus fumigatus | Fusarium sp | NA | N | N | N | N |
| Necrotic skin lesions | Y | N | N | Y | N | N | Y | Y | N |
| Late detachment of umbilical cord | Y | Unknown | Unknown | Y | Unknown | Y | N | N | Y |
| Wound healing | Poor | Normal | Poor | Poor | Poor | Normal | Poor | Poor | Normal |
| Bleeding tendency | Severe | Severe | Severe | Severe | Moderate | Severe | Moderate | Moderate | Moderate |
| Average no. platelet transfusions/y | > 50 | > 50 | > 50 | 10-20 | < 10 | > 50 | < 10 | < 10 | 5 |
| Average no. Ery transfusions/y | > 20 | > 20 | > 20 | 5-10 | < 5 | > 20 | 5-10 | 5-10 | > 10 |
| Birth (weight, g) | AT (3870) | AT (3650) | 35+4 (2040) | AT (3560) | AT (unknown) | AT (3500) | 35+6 (1935) | 35+6 (1945) | 3000 |
| Growth* | p 10 | p 3-10 | p 3 | p 40 | p 25 | p 3-10 | p < 3 | p < 3 | p 3-10 |
| Dysmorphic features | Strabism | Hypospadia | None | ASD (ll) | None | Coarse face, large tongue, psychomotor retardation | Anus praeter | Anus praeter | None |
| Physical examination | Splenomegaly | Normal | Hepatospleno-megaly | Transient hepatospleno-megaly | Transient hepatospleno-megaly | Hepatospleno-megaly | Transient hepato-spleno-megaly | Transient hepato-spleno-megaly | Hepatospleno-megaly |
| Major surgery | Y | Orchidectomy, perianal abscesses | N | Y | N | IV cath placement | Y | Y | N |
| Surgical complication | Hemothorax | — | — | Skin graft | — | — | Fistula | Bleeds | — |
| Hb level, g/dL, normal range | 12-14 | 10-12 | 8-10 | 6-9 | 6-10 | 6-11 | 8-10 | 10-14 | 6-10 |
| Plt count, × 109/L, normal range | 120-180 | 21-90 | 41-250 | 130-210 | 130-240 | 40-320 | 150-250 | 114-230 | 50-280 |
| WBC count, × 109/L, normal range | 12-35 | 20-45 | 20-70 | 20-59 | 20-65 | 22-54 | 20-50 | 18-49 | 30-60 |
| % neutrophils, range | 60-80 | 70-90 | 60-90 | 60-90 | 55-80 | 30-70 | 60-90 | 60-90 | 30-50 |
| % lymphocytes, range | 20-30 | 10-20 | 10-15 | 10-35 | 20-40 | 15-60 | 10-40 | 10-40 | 30-50 |
| BM ery/gran | 1:4.0 | 1: 1.0 | 1:2.5 | 1:12 | 1:8.0 | 1:8.0 | 1:1.6 | 1:5.0 | 1:4.5 |
| Cytogenetics | Normal | Normal (4% blasts) | Normal | Normal | Normal | Normal (< 5% blasts) | Normal | Normal | Normal |
| Immunization | Normal | Normal (VZV) | — | Normal | Normal | — | Normal | Normal | HBV only |
| BCG status | BCG− | BCG− | BCG+ | BCG− | BCG− | BCG− | BCG+ | BCG+ | BCG− |
| Alive | Y; BMT 2005 | Y; BMT 2006 | N; BMT 1999 | N | N | Y | Y | Y | Y |
| Mortality | — | — | BMT (VOD) | Pseudomonas sepsis and soft tissue infections | Nose bleed | — | — | — | — |
| . | Family 1 . | Family 2 . | Family 3 . | Family 4 . | Family 5 . | Family 6 . | Family 7 . | ||
|---|---|---|---|---|---|---|---|---|---|
| No. 1 . | No. 1 . | No. 1 . | No. 1 . | No. 2 . | No. 1 . | No. 1 . | No. 2 . | No. 1 . | |
| Sex (y of birth) | Male (1992) | Male (2002) | Male (1998) | Male (1992) | Male (1994) | Male (2002) | Female (1993)† | Female (1993)† | Male (2005) |
| First symptoms | Skin infection | Skin infection, petechiae | CNS bleeding | Omphalitis | Nose bleeding | Omphalitis CNS bleeds and anemia | TF-dep anemia | Anorectal fistula | Sepsis mucosal and skin bleeding |
| Average no. infections/y | 2, perianal abscesses | 7-8 (1st y), perianal abscesses | 6 | 4 | 2 | 3-4, perianal abscesses | 1 | 2 | 4 |
| Bacterial | Y | Y | Y | Y | Y | Y | Y | Y | Y |
| Viral | N | N | N | N | NA | (CMV) | N | N | (CMV) |
| Fungal | Presumed | Candida albicans | Aspergillus fumigatus | Fusarium sp | NA | N | N | N | N |
| Necrotic skin lesions | Y | N | N | Y | N | N | Y | Y | N |
| Late detachment of umbilical cord | Y | Unknown | Unknown | Y | Unknown | Y | N | N | Y |
| Wound healing | Poor | Normal | Poor | Poor | Poor | Normal | Poor | Poor | Normal |
| Bleeding tendency | Severe | Severe | Severe | Severe | Moderate | Severe | Moderate | Moderate | Moderate |
| Average no. platelet transfusions/y | > 50 | > 50 | > 50 | 10-20 | < 10 | > 50 | < 10 | < 10 | 5 |
| Average no. Ery transfusions/y | > 20 | > 20 | > 20 | 5-10 | < 5 | > 20 | 5-10 | 5-10 | > 10 |
| Birth (weight, g) | AT (3870) | AT (3650) | 35+4 (2040) | AT (3560) | AT (unknown) | AT (3500) | 35+6 (1935) | 35+6 (1945) | 3000 |
| Growth* | p 10 | p 3-10 | p 3 | p 40 | p 25 | p 3-10 | p < 3 | p < 3 | p 3-10 |
| Dysmorphic features | Strabism | Hypospadia | None | ASD (ll) | None | Coarse face, large tongue, psychomotor retardation | Anus praeter | Anus praeter | None |
| Physical examination | Splenomegaly | Normal | Hepatospleno-megaly | Transient hepatospleno-megaly | Transient hepatospleno-megaly | Hepatospleno-megaly | Transient hepato-spleno-megaly | Transient hepato-spleno-megaly | Hepatospleno-megaly |
| Major surgery | Y | Orchidectomy, perianal abscesses | N | Y | N | IV cath placement | Y | Y | N |
| Surgical complication | Hemothorax | — | — | Skin graft | — | — | Fistula | Bleeds | — |
| Hb level, g/dL, normal range | 12-14 | 10-12 | 8-10 | 6-9 | 6-10 | 6-11 | 8-10 | 10-14 | 6-10 |
| Plt count, × 109/L, normal range | 120-180 | 21-90 | 41-250 | 130-210 | 130-240 | 40-320 | 150-250 | 114-230 | 50-280 |
| WBC count, × 109/L, normal range | 12-35 | 20-45 | 20-70 | 20-59 | 20-65 | 22-54 | 20-50 | 18-49 | 30-60 |
| % neutrophils, range | 60-80 | 70-90 | 60-90 | 60-90 | 55-80 | 30-70 | 60-90 | 60-90 | 30-50 |
| % lymphocytes, range | 20-30 | 10-20 | 10-15 | 10-35 | 20-40 | 15-60 | 10-40 | 10-40 | 30-50 |
| BM ery/gran | 1:4.0 | 1: 1.0 | 1:2.5 | 1:12 | 1:8.0 | 1:8.0 | 1:1.6 | 1:5.0 | 1:4.5 |
| Cytogenetics | Normal | Normal (4% blasts) | Normal | Normal | Normal | Normal (< 5% blasts) | Normal | Normal | Normal |
| Immunization | Normal | Normal (VZV) | — | Normal | Normal | — | Normal | Normal | HBV only |
| BCG status | BCG− | BCG− | BCG+ | BCG− | BCG− | BCG− | BCG+ | BCG+ | BCG− |
| Alive | Y; BMT 2005 | Y; BMT 2006 | N; BMT 1999 | N | N | Y | Y | Y | Y |
| Mortality | — | — | BMT (VOD) | Pseudomonas sepsis and soft tissue infections | Nose bleed | — | — | — | — |
All families were consanguineous and of Turkish descent. For % lympho-subsets/proliferative capacity, all families were normal. Relative CD3+CD4+, CD3+CD8+, CD19+, CD16/56+ lymphocyte cell fractions and CD45RA/CD45RO distribution in the T-cell subsets tested. Lymphocyte proliferation upon activation by mitogens and CD3/CD28 MoAb combinations were tested as previously described.1 For “Birth (weight, g)” numbers outside parentheses indicate pregnancy duration in weeks (plus days in superscript).
To convert hemoglobin level from grams per deciliter to grams per liter, multiply grams per deciliter by 10.
Ery indicates erythrocyte; WBC, white blood cell; NA, no information available; CMV, cytomegalovirus; AT, at term (about 40 wk); —, none; VZV, varicella-zoster virus; HBV, hepatitis B virus; BMT, bone marrow transplantation; VOD, veno-occlusive disease; N, no; Y, yes.
Percentiles are given according to local growth charts.
Homozygous twins.