A number of mutations in different can result in severe congenital neutropenia (SCN).
Type |
Gene |
Location |
Inheritance |
1 |
ELANE |
19p13.3 |
auto dominant |
2 |
GF11 |
1p22.1 |
auto dominant |
3 (Kostmann) |
HAX1 |
1q21.3 |
auto recessive |
4 |
G3PC3 |
17q21.31 |
auto recessive |
5 |
VPS45 |
1q21.2 |
auto recessive |
6 |
JAGN1 |
3p25.3 |
auto recessive |
X-linked |
WAS |
X |
X linked |
Other hereditary disorder may be associated with neutropenia, so these need to be considered when evaluating the patient.
Specialty: Hematology Oncology