Table 2

Summary of IPEX or IPEX-like cases

Reported families*Case NoGestation (wk)Birth weight (g)Age at presentationAge at deathDiabetes mellitus**Failure to thriveDiarrhoea or ileusEczema or atopyThrombocytopeniaHaemolytic anaemia***HypothyroidismLymphadenopathy
*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 Meyer311Term286036 d4.5 mth+++
2Term25503 d32 d++
1977 Dodge231392130Birth40 h+
1982 Powell181Term33007 mth10 mth+++++
29 mth30 y++++(+)
3EarlyAlive @ 10 y++(+)
4Birth4 y++
5Birth3 mth++
63 mth25 mth++
72 y+
84 mth6 mth+
1982 Ellis27131006 wk21.5 mth+++f++
22 wk11 wk++++f++
1982 Walker-Smith3511.5 yAlive++
23 wk1 y++
1982 Savage4114 mth16 mth++++
1982 Hattevig251Term30808 d+++g
1990 Seidman4014 mth++++
1991 Jonas321371820<3 dInfancy+++
1991 Jonas3223621201 d6 mth+++
1993 Satake331Term2980BirthAlive @ 18 mth(+)++++
23000Birth10 mth(+)+++
33750Birth6 mth+++
1994 Zeller261SGA1 dMths+++
1995 Roberts3014232402 wk10 mth+++++
1996 Finel3713824201 d2 y+++++
1996 DiRocco24III.4Birth3 mth+++
III.16 mth++
III.31 mth7 mth++
III.745 d12 mth+
III.82 mth+
III.94 mth+
III.11Alive @ 7 y+g
1996 Peake2914232406 wk10 mth++++(+)+
24137504 wk19 mth++++
317 d10 wk+++
4Early++
1998 Kobayashi2826 mth3 y+++
2000 Ferguson141Term36291 mthAlive @ 8 y+++
236–3824382 mth10 mth++i++
3Term36572 wk2 y++++
4Term34303 wk12 wk++
2000 Cilio361341600Birth26 d+++
2001 Levy-Lahad221322000Birth19 d++i++++
2371350Birth5 wk+++i+
3362090Birth5 mth+++(+)
2001 Baud3814.5 mth++++
2TermNormal2 wk34 mth++++++
This report1†3 mth14 y+++
This report2<1 mthAlive++++++
This report3†2 mth10 y++++
2001Chatila121–53 wk–3 mth5/55/55/54/5( 3/5 )