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SP110 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SP110 gene

The SP110 gene provides instructions for a protein involved in immune system function and the regulation of gene activity within cellular nuclear bodies.

Normal Function

The SP110 gene produces the SP110 nuclear body protein, which is a component of nuclear bodies—structures within the cell nucleus. These structures are involved in:

  • Controlling the activity of certain genes.
  • Regulating cell division.
  • Managing apoptosis (the self-destruction of damaged or unnecessary cells).
  • Supporting the normal function of the immune system.

This protein is primarily active in leukocytes (immune system cells) and the spleen, where it helps regulate genes required for the immune response against viruses and bacteria.

Health Conditions Related to Genetic Changes

Hepatic veno-occlusive disease with immunodeficiency

Variants in the SP110 gene cause hepatic veno-occlusive disease with immunodeficiency (VODI). This condition involves:

  • Recurrent infections: Because the immune system cannot effectively fight foreign invaders due to a lack of functional SP110 protein.
  • Liver failure: Caused by blocked blood flow in the liver.

It remains unclear exactly how the loss of the SP110 protein disrupts liver blood flow, though it may be linked to unregulated apoptosis or the impact of persistent infections.

Frequently Asked Questions

Diagnosis is made by sequencing the SP110 coding exons and flanking intronic regions, often using a targeted immunodeficiency panel or whole‑exome sequencing. Once a pathogenic variant is identified, cascade testing (Sanger or targeted NGS) can be offered to parents, siblings, and extended relatives to determine carrier status or asymptomatic disease. Genetic counseling should be provided before and after testing to explain inheritance (autosomal recessive) and reproductive options.
llogeneic hematopoietic stem cell transplantation (HSCT) is considered when severe, recurrent infections persist despite optimal antimicrobial prophylaxis, or when immune reconstitution is unlikely to improve spontaneously. HSCT can correct the immunodeficiency but does not reverse existing liver damage, so liver status must be stable enough to tolerate conditioning regimens. Risks include graft‑versus‑host disease, infection, organ toxicity, and transplant‑related mortality; success rates improve when a matched sibling donor is available and the patient is transplanted before significant liver fibrosis develops.
Yes. Strict hand hygiene, avoiding crowded places during viral outbreaks, and using protective masks during respiratory seasons can lower exposure. Ensure up‑to‑date vaccinations for all preventable diseases, and consider prophylactic antifungal or antiviral agents during high‑risk periods (e.g., flu season). A diet rich in protein and micronutrients supports overall immune health, but no specific diet cures the genetic defect. Regular follow‑up with an immunologist to adjust prophylaxis based on infection history is essential.
Begin aggressive infection prophylaxis—daily oral antibiotics (e.g., trimethoprim‑sulfamethoxazole) and antiviral agents as recommended by an immunologist. Vaccinate against encapsulated bacteria (pneumococcus, meningococcus, Haemophilus influenzae) using conjugate vaccines, and consider immunoglobulin replacement if IgG levels are low. For liver protection, avoid hepatotoxic drugs, maintain adequate nutrition, and monitor liver function tests weekly. Early referral to a pediatric hepatology center is crucial for evaluating portal hypertension and discussing potential liver transplantation if liver failure progresses.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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