HomeGeneticsConditionAnhidrotic ectodermal dysplasia with immune deficiency
Back to Condition
Anhidrotic ectodermal dysplasia with immune deficiency
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Anhidrotic ectodermal dysplasia with immune deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic disorder that impairs the development of ectodermal tissues like skin, hair, and teeth, while severely compromising the body's ability to fight off infections.

Overview

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a form of ectodermal dysplasia, a group of conditions characterized by abnormal development of ectodermal tissues. The signs and symptoms of EDA-ID are evident soon after birth. Due to the severity of the associated immune system problems, most individuals with this condition survive only into childhood.

Symptoms and Clinical Features

EDA-ID affects multiple systems of the body, presenting distinct physical and immunological features:

Skin, Hair, and Dental Abnormalities

  • Dry, wrinkled, or abnormally dark skin patches
  • Sparse scalp and body hair
  • Missing teeth (hypodontia) or abnormally shaped teeth
  • A reduced ability to sweat (hypohidrosis) or complete inability to sweat (anhidrosis) due to missing or malfunctioning sweat glands. This can lead to dangerously high body temperature (hyperthermia), especially during exercise or in hot weather.

Immune System Deficiency

The severity of immune deficiency in EDA-ID varies among individuals, but typically includes:

  • Abnormally low levels of protective proteins called antibodies or immunoglobulins, making it difficult to fight infections
  • Impaired immune cells called macrophages, which have a decreased ability to recognize and destroy foreign invaders (such as bacteria, viruses, and yeast) that have sugar molecules (glycan antigens) on their surface
  • Recurrent infections in the lungs (pneumonia), ears (otitis media), sinuses (sinusitis), lymph nodes (lymphadenitis), skin, bones, and gastrointestinal tract
  • Abnormal inflammatory disorders, such as inflammatory bowel disease or rheumatoid arthritis, which affect approximately one quarter of individuals with EDA-ID

Frequency

The prevalence of the X-linked recessive form of EDA-ID is estimated to be approximately 1 in 250,000 individuals. Only a few cases of the autosomal dominant form have been documented in scientific literature.

Causes & Genetic Factors

EDA-ID is caused by genetic variants in one of two genes:

  • Variants in the IKBKG gene cause the X-linked recessive form of the condition.
  • Variants in the NFKBIA gene cause the autosomal dominant form of the condition.

Both genes produce proteins that regulate nuclear factor-kappa-B, a protein complex that binds to DNA and controls genes directing the body's immune and inflammatory responses, while also protecting cells from self-destruction.

The genetic variants responsible for EDA-ID result in proteins with altered function, reducing the activation of nuclear factor-kappa-B. This disrupts critical signaling pathways within immune cells, causing immune deficiency. While the exact mechanism is not fully understood, abnormal nuclear factor-kappa-B signaling in other cell types is also believed to alter the development of the skin, teeth, hair, and other tissues.

Inheritance

The inheritance pattern of EDA-ID depends on the mutated gene:

  • X-linked recessive: When caused by variants in the IKBKG gene (located on the X chromosome). In males, who have only one X chromosome, one altered copy of the gene is sufficient to cause the condition. In females, who have two X chromosomes, a variant must occur in both copies to cause the disorder, making males much more frequently affected. Fathers cannot pass X-linked traits to their sons.
  • Autosomal dominant: When caused by variants in the NFKBIA gene. One copy of the altered gene in each cell is sufficient to cause the disorder. Most of these cases result from new variants in the gene and occur in individuals with no family history of the condition.

Other Names for This Condition

  • Ectodermal dysplasia, hypohidrotic, with immune deficiency
  • EDA-ID
  • HED-ID
  • Hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia
  • Hypohidrotic ectodermal dysplasia with immune deficiency

Frequently Asked Questions

Children with EDA-ID are particularly susceptible to recurrent bacterial and fungal infections due to impaired macrophage function and low antibody levels. Common infections include pneumonia, otitis media, sinusitis, and skin or bone infections. Treatment typically involves aggressive antibiotic or antifungal therapy, often requiring intravenous administration. In severe cases, prophylactic antibiotics or immunoglobulin replacement therapy may be prescribed to reduce the frequency and severity of infections.
Parents must implement strict environmental controls to prevent hyperthermia, which can be life-threatening. This includes dressing the child in light, breathable clothing, using air conditioning or fans to keep indoor temperatures cool, and avoiding physical exertion during hot or humid weather. Parents should monitor for early signs of heat stress, such as flushed skin, lethargy, or rapid breathing, and seek immediate medical attention if body temperature rises significantly, as the child cannot regulate heat through sweating.
Currently, there is no standard cure for the immune deficiency aspect of EDA-ID. Treatment focuses on managing symptoms and preventing complications through infection control and supportive care. Because of the severity of the immune compromise and associated inflammatory disorders, most individuals with this condition do not survive into adulthood, with many succumbing to infections or organ failure in early childhood. Hematopoietic stem cell transplantation has been explored in some cases but outcomes vary and are not guaranteed.
Diagnosis is typically based on clinical features such as sparse hair, missing teeth, and lack of sweating, combined with laboratory evidence of immune deficiency, such as low immunoglobulin levels and abnormal macrophage function. Genetic testing is required for confirmation, specifically looking for mutations in the IFNGR1 or IFNGR2 genes, which are responsible for the immune signaling defects. Early genetic diagnosis is crucial for initiating appropriate medical management and genetic counseling for the family.
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.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss