Immunodeficiency associated with DNA repair defects [DS:H00094] Disorders of adaptive immunity [DS:H02526] Primary immunodeficiency disease [DS:H01725]
Description
FILS syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunodeficiency, livedo, and short stature. It has been reported that mutations in POLE cause FILS syndrome. POLE encodes the catalytic subunit of DNA polymerase epsilon.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02370 FILS syndrome
Pathway-based classification of diseases [BR:br08402]
Replication and repair
nt06509 DNA replication
H02370 FILS syndrome
nt06504 Base excision repair
H02370 FILS syndrome
Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debre M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G
Title
Polymerase epsilon1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").
Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP
Title
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes.
