Clinical presentation of 32 patients with RD
| Patient No. . | Year of birth . | Sex . | Gestational age, wk . | Weight at birth, g . | Percentile . | Age at presentation, d . | Infection/problem at presentation . |
|---|---|---|---|---|---|---|---|
| 1 | 2006 | F | 31 | 930 | 3-10 | 1 | Neonatal sepsis (Calbicans), died before HSCT |
| 2 | 1988 | F | 33 | 1150 | <3 | 1 | Neonatal sepsis |
| 3 | 2011 | F | n.r. | n.r. | n.r. | 4 | Diarrhea |
| 4 | 2008 | M | 27 | 1135 | 75-90 | 1 | Neonatal sepsis (S epidermidis) |
| 5 | 2008 | M | 37 | 2270 | <3 | 19 | Neonatal sepsis (S aureus) |
| 6 | 2010 | M | 40 | 3000 | 10-25 | 53 | Chronic otomastoiditis (K pneumoniae, S aureus) |
| 7 | 2011 | M | 39 | 2470 | <3 | 3 | Neonatal sepsis |
| 8 | 2005 | F | 36 | 2515 | 25-50 | 16 | Fever, weight loss |
| 9 | 2005 | F | 37 | 2400 | 3-10 | 1 | Neonatal sepsis (S agalactiae) |
| 10 | 2003 | M | 36 | 1910 | <3 | 2 | Mild respiratory distress, abdominal distension |
| 11 | 2004 | F | 33 | 1100 | <3 | 7 | Neonatal sepsis |
| 12 | 2006 | M | 39 | 2616 | <3 | 7 | Neonatal sepsis |
| 13 | 2007 | F | 39 | 2900 | 10-25 | 5 | Omphalitis, pneumatosis intestinalis |
| 14 | 2009 | F | 37 | 2000 | <3 | 75 | Whooping cough (B pertussis) |
| 15 | 2011 | M | 39 | 2430 | <3 | 1* | Neonatal sepsis, Omenn syndrome (8 wk) |
| 16 | 1982 | M | 38 | 2400 | <3 | 11 | Neonatal sepsis |
| 17 | 1987 | M | 42 | 2550 | <3 | 1 | Neonatal sepsis, diarrhea, failure to thrive |
| 18 | 1987 | F | 40 | 3684 | 50-75 | 1 | Neonatal sepsis (S viridans), UTI (C albicans) |
| 19 | 1993 | M | 31 | 1870 | 75-90 | 1 | Ascites, hepato/splenomegaly, cholestatic liver disease |
| 20 | 1998 | F | 36 | 2300 | 10-25 | 7 | Neonatal sepsis (E coli), pneumonitis, omphalitis |
| 21 | 1993 | F | 38 | 1310 | <3 | 19 | Neonatal sepsis, omphalitis |
| 22 | 2009 | F | 36 | 2000 | 3-10 | 1* | Neonatal sepsis |
| 23 | 1986 | M | 40 | 2850 | 3-10 | 1 | Neonatal sepsis |
| 24 | 1991 | M | 37 | 2100 | <3 | 1* | No clinical signs or symptoms |
| 25 | 1995 | M | 37 | 1920 | <3 | 1 | Prenatal anemia, neonatal sepsis (P aeruginosa) |
| 26 | 1997 | F | n.r. | n.r. | n.r. | 18 | n.r. |
| 27 | 1999 | M | 36 | 3000 | 50-75 | 7 | Neonatal sepsis (S aureus), omphalitis |
| 28 | 2000 | M | 31 | 1500 | 25-50 | 1 | Ileus due to intestinal dilatation (terminal ileum) of unknown origin |
| 29 | 2000 | F | 37 | 1750 | <3 | 3 | Neonatal sepsis (S aureus) |
| 30 | 2001 | F | 37 | 2770 | 25-50 | 14 | Prenatal anemia |
| 31 | 2002 | M | n.r. | 3350 | n.r. | 7 | Petechiae/thrombocytopenia |
| 32 | 2003 | M | 40 | 3165 | 10-25 | 8 | Omphalitis |
| Patient No. . | Year of birth . | Sex . | Gestational age, wk . | Weight at birth, g . | Percentile . | Age at presentation, d . | Infection/problem at presentation . |
|---|---|---|---|---|---|---|---|
| 1 | 2006 | F | 31 | 930 | 3-10 | 1 | Neonatal sepsis (Calbicans), died before HSCT |
| 2 | 1988 | F | 33 | 1150 | <3 | 1 | Neonatal sepsis |
| 3 | 2011 | F | n.r. | n.r. | n.r. | 4 | Diarrhea |
| 4 | 2008 | M | 27 | 1135 | 75-90 | 1 | Neonatal sepsis (S epidermidis) |
| 5 | 2008 | M | 37 | 2270 | <3 | 19 | Neonatal sepsis (S aureus) |
| 6 | 2010 | M | 40 | 3000 | 10-25 | 53 | Chronic otomastoiditis (K pneumoniae, S aureus) |
| 7 | 2011 | M | 39 | 2470 | <3 | 3 | Neonatal sepsis |
| 8 | 2005 | F | 36 | 2515 | 25-50 | 16 | Fever, weight loss |
| 9 | 2005 | F | 37 | 2400 | 3-10 | 1 | Neonatal sepsis (S agalactiae) |
| 10 | 2003 | M | 36 | 1910 | <3 | 2 | Mild respiratory distress, abdominal distension |
| 11 | 2004 | F | 33 | 1100 | <3 | 7 | Neonatal sepsis |
| 12 | 2006 | M | 39 | 2616 | <3 | 7 | Neonatal sepsis |
| 13 | 2007 | F | 39 | 2900 | 10-25 | 5 | Omphalitis, pneumatosis intestinalis |
| 14 | 2009 | F | 37 | 2000 | <3 | 75 | Whooping cough (B pertussis) |
| 15 | 2011 | M | 39 | 2430 | <3 | 1* | Neonatal sepsis, Omenn syndrome (8 wk) |
| 16 | 1982 | M | 38 | 2400 | <3 | 11 | Neonatal sepsis |
| 17 | 1987 | M | 42 | 2550 | <3 | 1 | Neonatal sepsis, diarrhea, failure to thrive |
| 18 | 1987 | F | 40 | 3684 | 50-75 | 1 | Neonatal sepsis (S viridans), UTI (C albicans) |
| 19 | 1993 | M | 31 | 1870 | 75-90 | 1 | Ascites, hepato/splenomegaly, cholestatic liver disease |
| 20 | 1998 | F | 36 | 2300 | 10-25 | 7 | Neonatal sepsis (E coli), pneumonitis, omphalitis |
| 21 | 1993 | F | 38 | 1310 | <3 | 19 | Neonatal sepsis, omphalitis |
| 22 | 2009 | F | 36 | 2000 | 3-10 | 1* | Neonatal sepsis |
| 23 | 1986 | M | 40 | 2850 | 3-10 | 1 | Neonatal sepsis |
| 24 | 1991 | M | 37 | 2100 | <3 | 1* | No clinical signs or symptoms |
| 25 | 1995 | M | 37 | 1920 | <3 | 1 | Prenatal anemia, neonatal sepsis (P aeruginosa) |
| 26 | 1997 | F | n.r. | n.r. | n.r. | 18 | n.r. |
| 27 | 1999 | M | 36 | 3000 | 50-75 | 7 | Neonatal sepsis (S aureus), omphalitis |
| 28 | 2000 | M | 31 | 1500 | 25-50 | 1 | Ileus due to intestinal dilatation (terminal ileum) of unknown origin |
| 29 | 2000 | F | 37 | 1750 | <3 | 3 | Neonatal sepsis (S aureus) |
| 30 | 2001 | F | 37 | 2770 | 25-50 | 14 | Prenatal anemia |
| 31 | 2002 | M | n.r. | 3350 | n.r. | 7 | Petechiae/thrombocytopenia |
| 32 | 2003 | M | 40 | 3165 | 10-25 | 8 | Omphalitis |
F, female; M, male; n.r., not reported; perc., percentile; UTI, urinary tract infection.
Positive family history with diagnosis immediately after birth.