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Home >> Specialities >> Blood & Marrow Transplantation >> Immune Deficiency Disorders

Immune Deficiency Disorders

The immune system is a remarkable defence mechanism that safeguards the body against a multitude of pathogens, from bacteria to viruses. However, in some individuals, this intricate system may falter, resulting in immune deficiency disorders. These conditions, often referred to as primary immunodeficiencies (PIDs), compromise the body's ability to fight infections and can lead to a range of health challenges.
Immune deficiency disorders, or primary immunodeficiencies, are a group of rare genetic disorders that affect the immune system's ability to function properly. Unlike secondary immunodeficiencies, which are acquired later in life, primary immunodeficiencies are typically present from birth. These disorders can manifest in various ways, leading to increased susceptibility to infections and, in severe cases, autoimmune or inflammatory conditions.

Types of Immune Deficiency Disorders
There are over 400 known types of primary immunodeficiency disorders, each with its own unique characteristics. Some common types include:

  • Severe Combined Immunodeficiency (SCID): Often referred to as the "bubble boy" disease, SCID is a severe and life-threatening disorder that affects both the T-cell and B-cell arms of the immune system.
  • Common Variable Immunodeficiency (CVID): CVID is characterized by low levels of immunoglobulins (antibodies) and can lead to recurrent infections, particularly in the respiratory and gastrointestinal tracts.
  • X-Linked Agammaglobulinemia (XLA): XLA primarily affects males and results in a lack of B cells, leading to an absence of antibodies and increased vulnerability to infections.
  • Chronic Granulomatous Disease (CGD): CGD is a genetic disorder that impairs the function of certain immune system cells called phagocytes, leading to recurrent bacterial and fungal infections.
  • Wiskott-Aldrich Syndrome (WAS): WAS primarily affects males and is characterized by low platelet counts, eczema, and recurrent infections.

Causes of Immune Deficiency Disorders
Primary immunodeficiency disorders are primarily caused by genetic mutations that disrupt the normal development or function of the immune system. These mutations can be inherited from one or both parents. In some cases, the specific genetic cause may not be known.

Symptoms of Immune Deficiency Disorders
The symptoms of immune deficiency disorders can vary widely depending on the type and severity of the condition. Common symptoms may include:

  • Recurrent Infections: Individuals with immune deficiency disorders may experience frequent and severe infections, including respiratory infections, sinusitis, ear infections, and skin infections.
  • Delayed Wound Healing: Wounds may take longer to heal due to the impaired immune response.
  • Autoimmune Conditions: Some immune deficiency disorders can lead to autoimmune diseases, where the immune system mistakenly attacks the body's own tissues and organs.
  • Growth and Developmental Delays: Children with severe immune deficiency disorders may experience growth and developmental delays.
  • Digestive Problems: Gastrointestinal symptoms such as chronic diarrhoea or malabsorption may occur.
  • Skin Issues: Skin problems like eczema or rashes may be present.

Diagnosis and Screening
The diagnosis of immune deficiency disorders typically involves a combination of clinical evaluation, blood tests to assess immune function, and genetic testing to identify specific genetic mutations. Early diagnosis is crucial to initiating appropriate treatment and preventing complications.

Treatment and Management
The management of immune deficiency disorders aims to strengthen the immune system and prevent infections. Treatment options may include:

  • Immunoglobulin Replacement Therapy: Intravenous or subcutaneous immunoglobulin (IVIG or SCIG) infusions can provide the body with the antibodies it lacks.
  • Antibiotics: Antibiotics may be prescribed to prevent or treat infections.
  • Stem Cell Transplant: For severe cases, a stem cell transplant may be considered to replace the defective immune system with a healthy one.
  • Gene Therapy: Emerging treatments, such as gene therapy, offer promising avenues for some genetic immune deficiency disorders.
  • Supportive Care: Managing symptoms, providing nutritional support, and addressing specific complications are essential aspects of care.

Prognosis
The prognosis for individuals with immune deficiency disorders varies depending on the type and severity of the condition. With early diagnosis and appropriate treatment, many individuals with primary immunodeficiencies can lead relatively normal lives. However, severe forms of these disorders can be life-threatening without intervention.

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