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STAT1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

STAT1 gene

The STAT1 gene provides instructions for a protein that regulates immune system pathways, balancing defense against infections with the control of inflammatory responses.

Normal Function

The STAT1 gene provides instructions for making a protein that is involved in multiple immune system functions, including the body's defense against a fungus called Candida. When the immune system recognizes Candida, it generates cells called Th17 cells. These cells produce signaling molecules (cytokines) called the interleukin-17 (IL-17) family as part of an immune process called the IL-17 pathway. The IL-17 pathway sends other cytokines and white blood cells to fight foreign invaders and promote tissue repair. The STAT1 protein helps keep the immune system in balance by blocking (inhibiting) this pathway when activated.

In contrast to its inhibitory role in the IL-17 pathway, the STAT1 protein helps promote other immune processes called the interferon-alpha/beta (IFNA/B) and interferon-gamma (IFNG) signaling pathways. The IFNA/B pathway is important in defense against viruses, and the IFNG pathway helps fight a type of bacteria called mycobacteria, which includes the bacterium that causes tuberculosis.

Health Conditions Related to Genetic Changes

Familial candidiasis

At least 35 STAT1 gene mutations have been identified in people with familial candidiasis, an inherited tendency to develop chronic infections of the skin, nails, and mucous membranes caused by the Candida fungus. These mutations are described as "gain of function" because they increase the amount of activated STAT1 protein in cells. By increasing STAT1's inhibitory effect on the IL-17 pathway, the mutations impair the body's ability to fight Candida.

Other disorders

STAT1 gene mutations can also cause other immune system problems known as immunodeficiency 31A and immunodeficiency 31B. These are described as "loss-of-function" mutations because they impair or eliminate the protein's normal action:

  • Immunodeficiency 31A: Impairs the STAT1 protein's function in the IFNG pathway, resulting in an increased susceptibility to mycobacteria.
  • Immunodeficiency 31B: A more severe disorder that impairs both the IFNG and IFNA/B pathways, resulting in susceptibility to both viral infections (such as herpes simplex and viral encephalitis) and mycobacterial infections.

Other Names for This Gene

  • IMD31A
  • IMD31B
  • IMD31C
  • ISGF-3
  • signal transducer and activator of transcription 1, 91kDa
  • signal transducer and activator of transcription-1
  • STAT91
  • transcription factor ISGF-3 components p91/p84

Frequently Asked Questions

Familial candidiasis caused by STAT1 gene mutations is an inherited condition. While the specific inheritance pattern isn't detailed here, the term "familial" suggests it runs in families, often implying an autosomal dominant pattern where only one altered copy of the gene is sufficient to cause the condition. Genetic counseling can provide precise information based on family history.
The primary symptoms of familial candidiasis are chronic and recurrent infections of the skin, nails, and mucous membranes caused by the Candida fungus. You should be concerned and seek medical attention if infections become widespread, are unusually severe, or do not respond to standard antifungal treatments, as this indicates the underlying immune system impairment.
Treatment for familial candidiasis focuses on managing the recurrent fungal infections. This typically involves antifungal medications, often for prolonged periods or prophylactically, to control Candida overgrowth. Because the underlying issue is an immune system imbalance due to the STAT1 mutation, treatment aims to mitigate the effects of this impaired immunity rather than curing the genetic cause itself.
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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