46
Management
Table 13A. Key Examples of Precision Medicine in IEI
Associated IEI Therapeutic agent
Inflammasome-related disorders (cont'd)
NOCARH (CDC42) Anakinra
FCAS4 (NLRC4) Canakinumab
Non-syndromic severe congenital neutropenia (SCN)
SCN type 1 G-CSF
SCN type 2
SCN type 3
SCN type 4
XL congenital neutropenia, CXCR2
deficiency
Miscellaneous syndromes that include neutropenia
Glycogen storage disease type IB G-CSF
Barth Syndrome Cartilage Hair
Hypoplasia Pearson's Syndrome
Schwachman-Diamond Syndrome
Reticular dysgenesis
CD40L deficiency
BTK deficiency
WHIM syndrome
IEI with SCN and hypopigmentation
Chediak-Higashi syndrome G-CSF
Hermansky-Pudlak syndrome type 2
Griscelli syndrome type 2
WHIM syndrome
WHIM syndrome Plerixafor
Mavorixafor
Disorders of vitamin B12 and folate metabolism
TCN2 deficiency Cyanocobalamin
Hydroxocobalamin
SLC46A1 deficiency High-dose intravenous folinic acid
MTHFD1 deficiency, CblF LBMRD1 Hydroxocobalamin
Folinic acid
(cont'd)
