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ZNF341 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

ZNF341 gene

The ZNF341 gene provides instructions for a transcription factor that regulates the activity of genes essential for immune system function.

Normal Function

The ZNF341 gene provides instructions for making a transcription factor, a protein that binds to specific regions of DNA to control the activity of other genes. ZNF341 is thought to regulate the STAT1 and STAT3 genes, which are critical for immune system health.

The STAT3 protein, in particular, transmits signals for the maturation of immune cells, such as T cells and B cells, and helps the body fight foreign invaders like viruses, bacteria, and fungi. STAT3 is also involved in the normal development and maintenance of bones and other tissues.

Health Conditions Related to Genetic Changes

Autosomal dominant hyper-IgE syndrome

Mutations in the ZNF341 gene have been found to cause a condition similar to autosomal dominant hyper-IgE syndrome (AD-HIES). While traditional AD-HIES is caused by STAT3 mutations and follows an autosomal dominant inheritance pattern, the condition caused by ZNF341 mutations follows an autosomal recessive pattern.

Mutations in ZNF341 result in a shortage or absence of the ZNF341 protein, which impairs the production of STAT1 and STAT3. A shortage of functional STAT3 blocks the maturation of specific immune cells, such as Th17 cells, making affected individuals highly susceptible to:

  • Recurrent skin infections
  • Recurrent lung infections
  • Abnormally high levels of immunoglobulin E (IgE) in the blood

Other Names for This Gene

  • ZNF341 gene

Frequently Asked Questions

Prophylactic measures include regular immunoglobulin replacement therapy if IgG levels are low, and prophylactic antibiotics (e.g., trimethoprim‑sulfamethoxazole) for Pneumocystis jirovecii prevention. Early recognition of infections, prompt culture‑guided antibiotic therapy, and aggressive wound care for skin lesions are essential. Vaccinations, especially pneumococcal and influenza, should be up to date.
Because STAT3 signaling influences bone remodeling, patients may develop mild osteopenia or fractures; baseline DEXA scans and calcium/vitamin D supplementation are recommended. Fertility is generally preserved, but some patients report menstrual irregularities; endocrine evaluation can help manage these issues. Regular monitoring by an endocrinologist and a bone specialist is advised.
Patients with ZNF341-related hyper‑IgE syndrome often present in early childhood with frequent skin abscesses, pneumonia, or sinus infections that do not respond to standard antibiotics. Elevated serum IgE levels (often >2000 IU/mL) and a history of eczema or allergic reactions are additional red flags. If these features appear together, a clinician may order a targeted genetic panel that includes ZNF341.
Confirmation requires DNA sequencing of the ZNF341 gene, typically through a next‑generation sequencing panel for primary immunodeficiencies or a whole‑exome sequencing approach. Once a variant is identified, a second‑hand confirmatory test such as Sanger sequencing is often performed. The results are interpreted by a clinical geneticist who also evaluates family history to determine inheritance patterns.
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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