Table 1.
Genotypes and clinical phenotype
| PID | Subgroup | Age at last visit (years) | Descent | Genotypic features | Affected organ systems | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Allele 1 (nucleotid change; NM_015909.3) | Allele 1 (protein change; NP_056993.2) | Allele 2 (nucleotid change; NM_015909.3) | Allele 2 (protein change; NP_056993.2) | Immune system | Liver | Nervous system | Skeletal system | Growth | Integument | Musculature | ||||
| NBAS 1 | β-propeller | 23 | PL | c.(558_560del) | p.(Ile187del) | c.(686dupT) | p.(Ser230Glnfs*4) | Y | Y | Y | Y | Y | Y | N |
| NBAS 7 | 17 | IE | c.(1241C > T) | p.(Ser414Phe) | c.(2950delA) | p.(Ile984Leufs*8) | Y | Y | Y | Y | Y | Y | Y | |
| NBAS 8 | 5 | DE | c.(1241C > T) | p.(Ser414Phe) | c.((6236 + 1_6237-1)_ (6432 + 1_6433-1)del) | p.(Glu2080*) | Y | Y | Y | Y | Y | Y | Y | |
| NBAS 10 | 17 | DE | c.(1278A > C) | p.(Cys426Trp) | c.((4582 + 1_4583-1)_ (4797 + 1_4798-1)del) | p.(Val1528Glyfs*2) | Y | Y | N | Y | Y | Y | N | |
| NBAS 87 | 1 | PK | c.(1948C > T) | p.(Pro650Ser) | c.(1948C > T) | p.(Pro650Ser) | Y | Y | Y | Y | n.d | N | N | |
| NBAS 2 | Sec39 | 28 | DE | c.(2708 T > G) | p.(Leu903Arg) | c.(2708 T > G) | p.(Leu903Arg) | Y | Y | Y | Y | N | N | N |
| NBAS 4 | 43 | DE | c.(2708 T > G) | p.(Leu903Arg) | c.(2827G > T) | p.(Glu943*) | Y | Y | Y | Y | Y | Y | N | |
| NBAS 54 | 7 | SA | c.(2819A > C) | p.(His940Pro) | c.(2819A > C) | p.(His940Pro) | Y | Y | N | N | N | N | N | |
| NBAS 60 | 2 | DE | c.(3534C > A) | p.(Ser1178Arg) | c.(1342-6A > G) | p.(?) | Y | Y | Y | N | N | N | N | |
| NBAS 88* | 0.7 | DE | c.(3534C > A) | p.(Ser1178Arg) | c.(1342-6A > G) | p.(?) | Y | Y | N | N | N | N | N | |
| NBAS 28 | C-terminal | 8 | ES | c.(5741G > A) | p.(Arg1914His) | c.(2032C > T) | p.(Gln678*) | Y | Y | Y | Y | Y | Y | N |
| NBAS 29 | 8 | DE | c.(5741G > A) | p.(Arg1914His) | c.(2827G > T) | p.(Glu943*) | Y | Y | Y | Y | Y | Y | Y | |
| NBAS 14 | 3 | HR | c.(5761G > C) | p.(Ala1921Pro) | c.(686dupT) | p.(Ser230Glnfs*4) | Y | Y | N | N | N | N | N | |
| NBAS 57 | 6 | US | c.(5547delC) | p.(Trp1850Glyfs*32) | c.(6966_6969delinsTC) | p.(Gln2322Hisfs*18) | Y | Y | Y | N | N | N | N | |
| NBAS 3 | 24 | DE | c.(603_605del) | p.(Leu202del) | c.(3164 T > C) | p.(Leu1055Pro) | Y | Y | Y | Y | Y | N | N | |
PID, patient identifier; PL, Poland; IE, Ireland; DE, Germany; PK, Pakistan; SA, Saudi Arabia; ES, Spain; HR, Croatia; US, United States; Y, yes; N, no; n.d., not determined
*Family history triggered investigation (brother of NBAS 60); elevated hepatic transaminases as the only symptom of the disease at the age 8 months (closure of study database)