Red cell disorders

Gene: TRNT1

Green List (high evidence)

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndromic disorder characterized by onset of severe sideroblastic anaemia in the neonatal period or infancy. Affected individuals show delayed psychomotor development with variable neurodegeneration. Recurrent periodic fevers without an infectious etiology occur throughout infancy and childhood; immunologic work-up shows B-cell lymphopaenia and hypogammaglobulinaemia. Other more variable features include sensorineural hearing loss, retinitis pigmentosa, nephrocalcinosis, and cardiomyopathy.

> 10 families reported.

Created: 14 Sep 2021, 5:58 a.m. | Last Modified: 14 Sep 2021, 5:58 a.m.

Panel Version: 0.141

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084

Publications

• 25193871
• 23553769
• 29170023
• 27389523