Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

SIFD syndrome is an autosomal recessive disorder caused by mutations of the TRNT1 gene. It is characterized by congenital sideroblastic anemia, B cell immunodeficiency, periodic fever, and developmental delay.

Systematic

Autoinflammatory disease
	Autoinflammation with arthritis and dyskeratosis
	Autoinflammation, antibody deficiency, and immune dysregulation syndrome
	Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
	CARD14 associated psoriasis
	Chronic recurrent multifocal osteomyelitis
	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
		TRNT1
	F12
	Familial cold autoinflammatory syndromes
	Hereditary pediatric Behçet-like disease
	Infantile-onset periodic fever-panniculitis-dermatosis syndrome
	Inflammatory bowel disease
	Interleukin 10 deficiency
	Interleukin 10 receptor deficiency
	Interleukin-1 receptor antagonist deficiency
	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
	Proteasome-associated autoinflammatory syndrome
	Pseudo-TORCH-Syndrom
	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
	SH3BP2 deficienc with multilocular cysticy disease of the mandibles
	STING-associated vasculopathy with onset in infancy
	Singleton-Merten syndrome
	Susceptibility to malignant hyperthermia 5
	Susceptibility to rheumatoid arthritis
	Systemic autoinflammatory disease
	Systemic-onset juvenile idiopathic arthritis
	TNF receptor-associated periodic syndrome

References:

1.	Chakraborty PK et. al. (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD).

2.	Wiseman DH et. al. (2013) A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD).