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

A rare genetic condition with severe anemia, weak immunity, repeated fevers, and developmental delay starting in infancy.

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

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome is a rare genetic form of anemia that also affects the immune system and nervous system.

It causes severe anemia (low or small red blood cells) and low B cells, a type of immune cell. It begins in infancy with repeated fevers, stomach and bowel problems, developmental delay, seizures, balance problems (ataxia), and hearing loss from the inner ear. The nervous system can be affected to varying degrees over time.

Signs & symptoms

Symptoms vary from person to person. GARD lists these among the most common:

Anemia (sideroblastic anemia)
Low B cell count
Global developmental delay
Seizures
Balance and coordination problems (ataxia)
Hearing loss from the inner ear

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
See a specialist
Specialists who may be involved include allergy and immune system specialists, blood and bone marrow specialists and genetic specialists.
Consider genetic testing
Changes in TRNT1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.

Care & treatment

Care team: Allergy and immune system specialists (allergists / immunologists); Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
Expert care: Expert lists: Immune Deficiency Foundation
Treatment: GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research: Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

Connect with Immune Deficiency Foundation
Keep notes on symptoms, changes and questions for appointments
Ask about patient registries that help research
Look into financial aid and travel resources for care visits

Bring these questions to your next doctor visit

Would TRNT1 gene testing help our family?

How often should blood counts and immune function be checked?

Which specialists, such as hematology, immunology, and neurology, should be involved?

Quick facts

Symptoms usually startNewborn and as an Infant

InheritanceAutosomal Recessive

GenesTRNT1

It is caused by changes in the TRNT1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.

GeneticBlood

Also known as: sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay; sifd; sifd syndrome

Patient organizations

Immune Deficiency FoundationPrimary immunodeficiency · United States

Broader rare-disease groups

Global GenesRare Diseases · United States
National Organization for Rare DisordersRare Diseases · United States
Genetic AllianceRare Diseases · United States
RARE FoundationRare Diseases · United States

Source: NIH GARD · Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeGARD ID 17586 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

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