Description

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.


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