Table 1 Study characteristics and description of extracted data in the 45 included studies
Author | Year | Study design | Description of index cases | Number of individuals in the study reported with | |||||
|---|---|---|---|---|---|---|---|---|---|
(no. of families) | Number of index cases | Sex (M/F) (no. of cases) | Age (age in years) | Ethnicity/ nationality | Clinical (C) or molecular genetic (M) diagnosis (no. of cases) (gene) | PPPK1 | PPPK1 and malignancy | ||
Elhaji [6] | 2020 | Family reports (18) | 18 | M(8), F(10) | NA | Canadian | C(7), M(11) (AAGAB) | 52 | 9 |
Johnston [18]a | 2020 | Family report | 1 | F | 80 | NA | M (AAGAB) | > 1 | 1 |
Charfeddine [12] | 2016 | Family reports (8) | 18 | M(11), F(7) | 21–95 | Tunisian | M (AAGAB) | 62 | 1 |
Podder [19] | 2015 | Family report | 1 | M | 66 | NA | C | 6 | 1 |
Elleuch [20] | 2014 | Family report | 1 | M | 70 | NA | C | 38 | 3 |
Cui [5] | 2013 | Family reports (8) Single cases | 8 28 | M(6), F(2) NA | NA | Chinese | C(3),M(5) (AAGAB) C(27),M(1) (AAGAB) | 57 28 | 5 3 |
Pöhler [21] | 2013 | Family reports (6) | 5b | M(1), F(4) | 42–79 | Scottish(4), English(1), Mexican(1) | M(AAGAB) | 44 | 1 |
Kiritsi [22] | 2013 | Family reports (3) | 4 | F(2), NA(2) | 46–75 | NA | M (AAGAB) | > 8 | 1 |
Vinod [23] | 2012 | Family report | 1 | M | 65 | NA | C | 7 | 1 |
Pohler [24] | 2012 | Family reports (18) | 17b | M(5), F(12) | NA | Scottish(12), Irish(1), Japanese(2), Tunisian(3) | M (AAGAB) | 93 | “a few” |
O'Toole [25] | 2012 | Family report | 1 | F | 54 | NA | C | 2 | 1 |
Mamai [26] | 2012 | Family reports (3) | 1b | M | NA | Tunisian | C | 54 | ?c |
Guo [4] | 2012 | Family report | 1 | F | NA | Chinese | M (COL14A1) | 9 | 1 |
Gao [27] | 2005 | Family report | 1 | M | 47 | Chinese | C | 14 | 2 |
Lienemann [28] | 2004 | Family report | 1 | M | 49 | NA | C | 2 | 1 |
Asadi [29] | 2003 | Family report | 1 | M | 75 | NA | C | 2 | 1 |
Emmert [30] | 2003 | Family report | 1 | M | 76 | NA | C | 3 | 1 |
Martinez-Mir [31] | 2003 | Family reports (3) | 1b | M | 83 | Syrian(1), Arab–Israeli(1), Mexican(1)d | C | 57 | 2e |
Stevens [9] | 1996 | Family report | 1 | F | 46 | Irish | C | 49 | 10 |
Bennion [8] | 1984 | Family report | 1 | M | 43 | ‘white man’ | C | 8 | 3 |
Smith [32]f | 1970 | Cohort study | 7 | NAf | NAf | NAf | C | NAf | NAf |
Shaffer [33] | 1945 | Family report | 1 | M | 67 | ‘colored man’ | C | 5 | 1 |
Neuber [34] | 1930 | Single case | 1 | M | 67 | NA | C | 1 | 1 |
~ 602 | ~ 50 | ||||||||
Harjama [35] | 2021 | Cohort study | 9 g | M(4), F(5) | NA | Finnish | M (AAGAB) | 9 | 0 |
Klein [36] | 2021 | Family report | 1 | F | 68 | NA | M (AAGAB) | 4 | 0 |
Pimenta [37]a | 2019 | Family reports (3) | 3 | F(3) | 59–65 | NA | M (AAGAB) | ≥ 6 | 0 |
Zamiri [38] | 2019 | Family reports (16) | 16 | NA | NA | NA | M (AAGAB) | > 30 | 0 |
Bukhari [39] | 2019 | Single case | 1 | M | 59 | NA | C | 1 | 0 |
Monteiro [40] | 2019 | Family report | 1 | F | 53 | Caucasian | C | 2 | 0 |
Panetta [41] | 2017 | Family report | 1 | M | 55 | Caucasian | C | 2 | 0 |
Asemota [11] | 2016 | Single case | 1 | F | 53 | NA | C | 1 | 0 |
Nomura [42] | 2015 | Family report | 1 | F | 80 | Japanese | M (AAGAB) | 2 | 0 |
Li [43] | 2014 | Family report | 1 | F | 48 | Chinese | M (AAGAB) | 7 | 0 |
Pai [44] | 2012 | Family report | 1 | M | 52 | NA | C | 2 | 0 |
Rapprich [45] | 2011 | Sngle case | 1 | M | 44 | NA | C | 1 | 0 |
Miljkovic [46] | 2009 | Family reports (11) Single cases | 62 4 | M(38), F (28) | NA | Slovenia | C | 66 | 0 |
Bchetnia [47] | 2009 | Family reports (5) | 5 | M(4), F(1) | NA | Tunisian | C | 16 | 0 |
Cooke [48] | 2007 | Single case | 1 | M | 50 | NA | C | 1 | 0 |
Erkek [49] | 2007 | Family report | 1 | M | 41 | NA | C | 3 | 0 |
Oztas [10] | 2007 | Family report | 1 | M | 70 | NA | C | 3 | 0 |
Kumari [14] | 2006 | Family report | 1 | M | 8 | NA | C | 5 | 0 |
Kong [50] | 2004 | Family report | 1 | F | 61 | German | C | 7 | 0 |
Schreiber [51] | 1997 | Single case | 1 | NA | 56 | NA | C | 7 | 0 |
Hesse [52] | 1993 | Family report | 1 | M | 48 | Caucasian | C | 4 | 0 |
Rustad [53] | 1990 | Cohort studyh | 44 | M(30), F(14) | NA | black(20), white(18), other(6) | C | 44 | 0 |
~ 215 | 0 | ||||||||
In total | 1930–2021 | Family report (24) Family reports (10) Single cases (6) Cohort study (3) mixturei (2) | 1–62 (sum = 280) | M(126) F(98) NA(46) | 1–95 | C (31) M (12) Mixturei (2) | ~ 817 | 50 | |