Selected demographics and laboratory parameters for the 12 children identified with CSA, B-cell immunodeficiency, periodic fevers, and developmental delay
| Case no. . | Country of birth . | Year of birth . | Gender . | Ethnicity . | Consanguinuity? . | Age at presentation . | Blood count (at diagnosis) . | RS, % of BM erythroblasts . | Iron studies (pretransfusion unless indicated by *) . | Serum Igs at diagnosis, mg/dL (pre-IVIg unless indicated by *) . | B-cell numbers at diagnosis, ×109/L (% total lymphs) . | Notes . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hb, g/dL . | MCV, fL . | Transferrin saturation, % . | Serum ferritin, ng/mL . | IgG . | IgA . | IgM . | ||||||||||
| 1† | Wales | 1996 | F | Pakistani | Yes | 18 mo | 7.2 | 53.6 | 52-65 | 19 | 139 | 352 | 20 | 25 | 0.016 (1) | α+ thalassemia trait; low IgG1 and IgG3; progressive fall in Igs, T and NK cells; suboptimal response to immunizations |
| 2† | Wales | 2005 | M | Pakistani | Yes | 8 wk | 8.2 | 56.0 | >75 | ND | 95 | 266 | 27 | 25 | 0.17 (2.8) | Progressive fall in Igs, T and NK cells; suboptimal response to immunizations |
| 3‡ | USA | 1991 | F | Caucasian | No | Neonatal | 5.2 | 73.2 | >50 | ? | 41 290* | Low | Low | Normal | Low | — |
| 4‡ | USA | 1985 | M | Caucasian | No | Neonatal | Low | Low | ND | ? | ? | Low | Low | Low | ND | — |
| 5 | USA | 1998 | M | Caucasian | No | 3 wk | 7.0 | 61.0 | Frequent | 33 | ND | ? | ? | ? | ? | — |
| 6 | Portugal | 2003 | F | Caucasian | No | Neonatal | 8.3 | 68.0 | >40 | 93* | 1998* | 90 | <6 | 15 | 0.035 (2) | — |
| 7 | France | 2003 | M | Caucasian (Spanish) | No | 7 mo | 6.0 | 62.0 | >40 | ND | 729 | <200 | 23 | <30 | 0.05 (1.5) | B-cell numbers fluctuated (acute drop during febrile episodes) |
| 8 | USA | 1993 | F | Caucasian (Hispanic) | Yes | 3 mo | 7.1 | 54.0 | 40 | 90* | 361* | 606* | 58* | 46* | 0.16 (9) | Sickle cell trait; B-cell numbers fluctuated (acute fall during febrile episodes) |
| 9 | Canada | 2007 | F | Caucasian | No | 7 mo | 6.6 | 63.4 | 5 | 48 | 290 | 368 | 26 | 99 | Low | — |
| 10 | Canada | 2007 | F | Pakistani | Yes | 7 mo | 8.2 | 71.1 | >15 | 44 | 5730 | 70 | <7 | 7 | 0.07 (2) | Progressive fall in B and T cells |
| 11 | England | 2009 | M | Caucasian (UK) | No | 7 wk | 4.8 | 66.0 | >50 | 37 | 926 | 45 | <7 | 9 | 0.22 (5) | Increased naive IgD+ CD27− B cells; ‘leaky’ maturation arrest in B precursors |
| 12 | USA | 2009 | M | Caucasian (Irish/ Polish/ Lithuanian) | No | Neonatal | 7.3 | 57.0 | 40 | 30 | 302 | 731 | 35 | 62 | 0.655 (17) | — |
| Case no. . | Country of birth . | Year of birth . | Gender . | Ethnicity . | Consanguinuity? . | Age at presentation . | Blood count (at diagnosis) . | RS, % of BM erythroblasts . | Iron studies (pretransfusion unless indicated by *) . | Serum Igs at diagnosis, mg/dL (pre-IVIg unless indicated by *) . | B-cell numbers at diagnosis, ×109/L (% total lymphs) . | Notes . | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hb, g/dL . | MCV, fL . | Transferrin saturation, % . | Serum ferritin, ng/mL . | IgG . | IgA . | IgM . | ||||||||||
| 1† | Wales | 1996 | F | Pakistani | Yes | 18 mo | 7.2 | 53.6 | 52-65 | 19 | 139 | 352 | 20 | 25 | 0.016 (1) | α+ thalassemia trait; low IgG1 and IgG3; progressive fall in Igs, T and NK cells; suboptimal response to immunizations |
| 2† | Wales | 2005 | M | Pakistani | Yes | 8 wk | 8.2 | 56.0 | >75 | ND | 95 | 266 | 27 | 25 | 0.17 (2.8) | Progressive fall in Igs, T and NK cells; suboptimal response to immunizations |
| 3‡ | USA | 1991 | F | Caucasian | No | Neonatal | 5.2 | 73.2 | >50 | ? | 41 290* | Low | Low | Normal | Low | — |
| 4‡ | USA | 1985 | M | Caucasian | No | Neonatal | Low | Low | ND | ? | ? | Low | Low | Low | ND | — |
| 5 | USA | 1998 | M | Caucasian | No | 3 wk | 7.0 | 61.0 | Frequent | 33 | ND | ? | ? | ? | ? | — |
| 6 | Portugal | 2003 | F | Caucasian | No | Neonatal | 8.3 | 68.0 | >40 | 93* | 1998* | 90 | <6 | 15 | 0.035 (2) | — |
| 7 | France | 2003 | M | Caucasian (Spanish) | No | 7 mo | 6.0 | 62.0 | >40 | ND | 729 | <200 | 23 | <30 | 0.05 (1.5) | B-cell numbers fluctuated (acute drop during febrile episodes) |
| 8 | USA | 1993 | F | Caucasian (Hispanic) | Yes | 3 mo | 7.1 | 54.0 | 40 | 90* | 361* | 606* | 58* | 46* | 0.16 (9) | Sickle cell trait; B-cell numbers fluctuated (acute fall during febrile episodes) |
| 9 | Canada | 2007 | F | Caucasian | No | 7 mo | 6.6 | 63.4 | 5 | 48 | 290 | 368 | 26 | 99 | Low | — |
| 10 | Canada | 2007 | F | Pakistani | Yes | 7 mo | 8.2 | 71.1 | >15 | 44 | 5730 | 70 | <7 | 7 | 0.07 (2) | Progressive fall in B and T cells |
| 11 | England | 2009 | M | Caucasian (UK) | No | 7 wk | 4.8 | 66.0 | >50 | 37 | 926 | 45 | <7 | 9 | 0.22 (5) | Increased naive IgD+ CD27− B cells; ‘leaky’ maturation arrest in B precursors |
| 12 | USA | 2009 | M | Caucasian (Irish/ Polish/ Lithuanian) | No | Neonatal | 7.3 | 57.0 | 40 | 30 | 302 | 731 | 35 | 62 | 0.655 (17) | — |
Laboratory results are the earliest recorded results available, unless otherwise stated. Missing data (indicated by ?) resulted from inability to retrospectively retrieve laboratory records despite best efforts of treating physicians; where possible, a qualitative indication is instead provided, based on available documentation and correspondence and physician recall of the case/s. Cases were numbered in the order they were included for analysis.
IVIg, intravenous immunoglobulin replacement therapy; ND, not done; NK, natural killer; RS, ringed sideroblast.
First iron studies performed (or retrievable) were measured after commencing regular transfusion program.
and ‡ indicate sibling pairs.