Reported families* | Case No | Gestation (wk) | Birth weight (g) | Age at presentation | Age at death | Diabetes mellitus** | Failure to thrive | Diarrhoea or ileus | Eczema or atopy | Thrombocytopenia | Haemolytic anaemia*** | Hypothyroidism | Lymphadenopathy |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
*Cases from same family if reference is not repeated. †Also noted other maternally related affected males in family history. **(+) glucose intolerance. fFollicular dermatitis. gGluten responsive. iIleus or recurrent vomiting rather than diarrhoea. ***(+) anaemia, aetiology unspecified. Note: Case 1 of Peake et al,29 is the same patient as reported by Roberts and Searle30 (J Searle, personal communication), and further reports on case 1 of Satake et al33 are found in references 17, 28, 34, 42, and 43. | |||||||||||||
1970 Meyer31† | 1 | Term | 2860 | 36 d | 4.5 mth | + | + | + | |||||
2 | Term | 2550 | 3 d | 32 d | + | + | |||||||
1977 Dodge23† | 1 | 39 | 2130 | Birth | 40 h | + | |||||||
1982 Powell18† | 1 | Term | 3300 | 7 mth | 10 mth | + | + | + | + | – | + | ||
2 | 9 mth | 30 y | + | + | + | + | (+) | ||||||
3 | Early | Alive @ 10 y | + | + | (+) | ||||||||
4 | Birth | 4 y | + | + | |||||||||
5 | Birth | 3 mth | + | + | |||||||||
6 | 3 mth | 25 mth | + | + | |||||||||
7 | 2 y | + | |||||||||||
8 | 4 mth | 6 mth | + | ||||||||||
1982 Ellis27 | 1 | 3100 | 6 wk | 21.5 mth | – | + | + | +f | + | + | – | ||
2 | 2 wk | 11 wk | + | + | + | +f | – | + | + | ||||
1982 Walker-Smith35 | 1 | 1.5 y | Alive | – | + | + | |||||||
2 | 3 wk | 1 y | + | + | |||||||||
1982 Savage41 | 1 | 4 mth | 16 mth | + | + | + | + | ||||||
1982 Hattevig25 | 1 | Term | 3080 | 8 d | + | + | +g | ||||||
1990 Seidman40 | 1 | 4 mth | + | + | + | + | |||||||
1991 Jonas32 | 1 | 37 | 1820 | <3 d | Infancy | + | + | + | |||||
1991 Jonas32 | 2 | 36 | 2120 | 1 d | 6 mth | + | + | + | |||||
1993 Satake33 | 1 | Term | 2980 | Birth | Alive @ 18 mth | (+) | + | + | + | + | |||
2 | 3000 | Birth | 10 mth | (+) | + | + | + | ||||||
3 | 3750 | Birth | 6 mth | – | + | + | + | ||||||
1994 Zeller26 | 1 | SGA | 1 d | Mths | + | + | + | ||||||
1995 Roberts30† | 1 | 42 | 3240 | 2 wk | 10 mth | + | + | + | + | + | |||
1996 Finel37 | 1 | 38 | 2420 | 1 d | 2 y | + | + | + | + | + | |||
1996 DiRocco24 | III.4 | Birth | 3 mth | – | + | + | + | ||||||
III.1 | 6 mth | + | + | ||||||||||
III.3 | 1 mth | 7 mth | + | + | |||||||||
III.7 | 45 d | 12 mth | – | + | |||||||||
III.8 | 2 mth | + | |||||||||||
III.9 | 4 mth | + | |||||||||||
III.11 | Alive @ 7 y | +g | |||||||||||
1996 Peake29 | 1 | 42 | 3240 | 6 wk | 10 mth | + | + | + | + | (+) | + | ||
2 | 41 | 3750 | 4 wk | 19 mth | + | + | + | – | + | ||||
3 | 17 d | 10 wk | + | + | + | ||||||||
4 | Early | + | + | ||||||||||
1998 Kobayashi28† | 2 | 6 mth | 3 y | + | + | + | |||||||
2000 Ferguson14† | 1 | Term | 3629 | 1 mth | Alive @ 8 y | + | + | + | |||||
2 | 36–38 | 2438 | 2 mth | 10 mth | + | +i | + | + | |||||
3 | Term | 3657 | 2 wk | 2 y | + | + | + | + | |||||
4 | Term | 3430 | 3 wk | 12 wk | + | + | |||||||
2000 Cilio36 | 1 | 34 | 1600 | Birth | 26 d | + | + | + | |||||
2001 Levy-Lahad22† | 1 | 32 | 2000 | Birth | 19 d | – | + | +i | + | + | + | + | |
2 | 37 | 1350 | Birth | 5 wk | + | + | +i | + | – | ||||
3 | 36 | 2090 | Birth | 5 mth | + | + | + | (+) | – | ||||
2001 Baud38 | 1 | 4.5 mth | + | + | + | + | |||||||
2 | Term | Normal | 2 wk | 34 mth | + | + | + | + | + | + | – | ||
This report | 1† | 3 mth | 14 y | + | + | + | |||||||
This report | 2 | <1 mth | Alive | + | + | + | + | + | + | ||||
This report | 3† | 2 mth | 10 y | + | + | + | + | ||||||
2001Chatila12 | 1–5 | 3 wk–3 mth | 5/5 | 5/5 | 5/5 | 4/5 | ( 3/5 ) |