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Living with DNA ligase IV deficiency

An inherited condition affecting DNA repair, with a small head, slow growth, low blood counts, and a weak immune system.

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Understanding DNA ligase IV deficiency

DNA ligase IV deficiency, also called LIG4 syndrome, is an inherited condition in which the body can't properly repair breaks in its DNA.

People with this condition can have a small head, unusual facial features, slow growth, and delayed development. They may have skin differences and low blood cell counts (pancytopenia), along with a weakened immune system (combined immunodeficiency). Signs show up in the newborn and infant years.

Signs & symptoms

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

  • Small head size (microcephaly)
  • Weak immune system (immunodeficiency)
  • Low blood cell counts (pancytopenia)
  • Slow growth
  • Delays in development
  • Sun-sensitive skin

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

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include allergy and immune system specialists, brain and nervous system specialists, cancer specialists and genetic specialists.

  3. Consider genetic testing

    Changes in LIG4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.

  4. 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); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); 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 genetic testing for the LIG4 gene help our family?
How should my child's immune system and blood counts be monitored?
Which specialists, such as immunology or hematology, should we see?

Quick facts

Symptoms usually startNewborn and as an Infant
InheritanceAutosomal Recessive
GenesLIG4

GARD says changes in the LIG4 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.

GeneticNeurological

Also known as: deoxyribonucleic acid ligase iv deficiency; dna (deoxyribonucleic acid) ligase iv deficiency; lig4 (ligase 4) syndrome; lig4 syndrome; ligase 4 syndrome

Patient organizations

Broader rare-disease groups

Source: NIH GARD · DNA ligase IV deficiencyGARD ID 15000 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

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Explore research for DNA ligase IV deficiency

Explore actively recruiting DNA ligase IV deficiency studies with HealthSpark.

HealthSpark

Find actively recruiting studies for DNA ligase IV deficiency with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
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  • Eligibility is confirmed by the study team

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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

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