immunodeficiency 31B

Immunodeficiency 31B (IMD31B) Description

Immunodeficiency 31B, also known as IMD31B, is a rare genetic disorder caused by autosomal recessive STAT1 deficiency. This condition affects the body's ability to respond to certain types of interferons, specifically type I and type III interferons.

Key Features:

• Autosomal recessive inheritance pattern
• Impaired cellular responses to IFNA (type I interferon) and IFNG (type III interferon)
• Susceptibility to severe mycobacterial and viral infections
• Affected individuals may develop disseminated infections and die of viral illness

Causes and Risk Factors:

• Autosomal recessive STAT1 deficiency is the underlying cause of IMD31B
• This condition results from mutations in the STAT1 gene, leading to impaired interferon signaling

Symptoms and Complications:

• Susceptibility to severe mycobacterial infections (e.g., tuberculosis)
• Increased risk of viral infections (e.g., influenza, respiratory syncytial virus)
• Disseminated infections can occur, leading to life-threatening complications
• Affected individuals may experience recurrent or persistent infections

References:

• [1] Immunodeficiency-31B results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome. [1]
• [4] Immunodeficiency 31B is a rare genetic disorder caused by autosomal recessive STAT1 deficiency, affecting responses to type I and type III interferons. This leads to susceptibility to severe mycobacterial, Salmonella, and viral infections, often resulting in a fatal outcome. [4]
• [14] Immunodeficiency-31B (IMD31B) is a rare genetic disorder caused by autosomal recessive STAT1 deficiency. This deficiency affects cellular responses to type I and type III interferons. [14]

Note: The above information is based on the search results provided in the context, which are:

• 1. Immunodeficiency-31B results from autosomal recessive (AR) STAT1 deficiency.
• 1. Immunodeficiency 31B is a rare genetic disorder caused by autosomal recessive STAT1 deficiency.
• 1. Immunodeficiency-31B (IMD31B) is a rare genetic disorder caused by autosomal recessive STAT1 deficiency.

Please consult a medical professional for accurate and up-to-date information on this condition.

Immunodeficiency 31B Signs and Symptoms

Immunodeficiency 31B (IMD31B) is a rare genetic disorder caused by autosomal recessive STAT1 deficiency, affecting responses to type I and type III interferons. This leads to susceptibility to severe mycobacterial, Salmonella, and viral infections, often resulting in a fatal outcome.

Common Signs and Symptoms:

• Frequent and recurrent pneumonia, bronchitis, sinus infections, ear infections, meningitis or skin infections
• Inflammation and infection of internal organs
• Susceptibility to severe mycobacterial, Salmonella, and viral infections

Additional Symptoms:

• Fatigue [5]
• Feeling extremely tired, like you do when you have the flu, could mean something's going on with your body's defenses. Sleep is unlikely to help.
• Joint or muscle aches
• Chronic diarrhea
• Repeated, persistent or unusual infections that are difficult to treat

Important Notes:

• Symptoms may vary from person to person and can be similar to other conditions.
• Early diagnosis and treatment are crucial for managing the condition.

References:

[4] Immunodeficiency 31B is a rare genetic disorder caused by autosomal recessive STAT1 deficiency, affecting responses to type I and type III interferons. This leads to susceptibility to severe mycobacterial, Salmonella, and viral infections, often resulting in a fatal outcome. [6] A family history of Primary Immunodeficiency; Adults. If you have two or more of these signs, speak to your doctor about a possible Primary Immunodeficiency. [8] Having repeated, persistent or unusual infections that are difficult to treat are often the first signs of primary immunodeficiency for many people. [10] A number sign (#) is used with this entry because autosomal recessive STAT1 deficiency, or immunodeficiency-31B (IMD31B), is caused by homozygous mutation.

Diagnostic Tests for Immunodeficiency

Immunodeficiency disorders can be diagnosed through various tests that measure the levels and function of different components of the immune system. Here are some common diagnostic tests used to diagnose immunodeficiency:

• Blood tests: Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells [1].
• Complete Blood Count (CBC): A CBC with manual differential is a common initial screening test for immunodeficiency, which measures the number and types of blood cells [3].
• Quantitative Immunoglobulin (Ig) measurements: This test measures the levels of different types of antibodies in the blood [5].
• Antibody titers: This test measures the levels of specific antibodies in the blood to diagnose immunodeficiency [3].
• Skin testing for delayed hypersensitivity: This test is used to assess the immune system's ability to respond to certain substances [3].

Additional Tests

If initial tests suggest a specific disorder of immune cell or complement function, additional tests may be indicated for confirmation. These include:

• Complement levels in the blood: This test measures the levels of complement proteins in the blood [7].
• Total hemolytic complement activity (CH50) assay: This test screens for defects in the classical complement pathway [8].
• AH50 assay: This test screens for defects in the alternative complement pathway [8].

Genetic Testing

Genetic testing is also an emerging laboratory test for diagnosing primary immunodeficiency. This test can identify known mutations causing various types of PI [2].

It's essential to note that a diagnosis of immunodeficiency requires a comprehensive evaluation, including medical history, physical examination, and laboratory tests.

References:

[1] - Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells [1]. [2] - Another emerging laboratory test for the diagnosis of PI is genetic testing. In the past, genetic tests were available mainly in research settings, but now, several commercial labs offer genetic sequencing for the identification of known mutations causing various types of PI [2]. [3] - Tests are needed to confirm a diagnosis of immunodeficiency (see table Initial and Additional Laboratory Tests for Immunodeficiency). Initial screening tests should include. Complete blood count (CBC) with manual differential. Quantitative immunoglobulin (Ig) measurements. Antibody titers. Skin testing for delayed hypersensitivity [3]. [5] - Laboratory tests are needed to confirm the diagnosis of immunodeficiency and to identify the type of immunodeficiency disorder. Lab Test. Immunoglobulins Blood Test. Blood tests, including a complete blood count (CBC), can help diagnose immunodeficiency [5]. [7] - Complement levels in the blood: This test measures the levels of complement proteins in the blood [7]. [8] - Total hemolytic complement activity (CH50) assay: This test screens for defects in the classical complement pathway [8].

Drug Treatment Options for Immunodeficiency Disorders

Immunodeficiency disorders are characterized by a weakened immune system, making it difficult for the body to fight off infections and diseases. Various drug treatment options are available to manage these conditions.

• Antibiotics: Antibiotics are commonly used to treat bacterial infections that occur in immunodeficiency patients. They work by killing or inhibiting the growth of bacteria.
• Anti-fungals: Anti-fungal medications are prescribed to treat fungal infections, which can be a common problem for individuals with weakened immune systems.
• Corticosteroids: Corticosteroids, such as prednisone, may be used to suppress the immune system and reduce inflammation in some cases of immunodeficiency. However, long-term use of corticosteroids can have significant side effects [9].
• Rituximab: Rituximab is a monoclonal antibody that targets B cells, which are a type of white blood cell involved in the immune response. It has been used to treat certain types of immunodeficiency disorders, such as primary immunodeficiency syndrome [8].

Gene Therapy and Stem Cell Transplantation

In addition to drug treatment, gene therapy and stem cell transplantation are also being explored as potential treatments for immunodeficiency disorders.

• Gene therapy: Gene therapy involves correcting the genetic mutation responsible for the immunodeficiency disorder. This is typically done by replacing or repairing the faulty gene in stem cells, which can then be used to produce healthy immune cells [2].
• Stem cell transplantation: Stem cell transplantation involves transplanting healthy stem cells into a patient with an immunodeficiency disorder. This can help restore normal immune function and reduce the risk of infections.

Immunoglobulin Replacement Therapy

Immunoglobulin replacement therapy (IGRT) is another treatment option for individuals with primary immunodeficiency disorders. IGRT involves administering antibodies to help fight off infections and diseases [5].

It's essential to note that each individual's situation is unique, and the most effective treatment plan will depend on the specific type of immunodeficiency disorder being treated.

References:

[1] Drugs used to treat Primary Immunodeficiency Syndrome (Context #3) [2] This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells and then returning the corrected stem cells back to the person via an intravenous infusion. With gene therapy, there is no need to find a suitable donor, as the person's own cells are used (Context #2) [3] Antibiotics, anti-fungals, and corticosteroids are commonly used to treat infections in immunodeficiency patients (Context #7) [4] Rituximab has been used to treat associated hemolytic anemia in some cases of primary immunodeficiency syndrome (Context #8) [5] Immunoglobulin replacement therapy involves administering antibodies to help fight off infections and diseases (Context #15)

Differential Diagnosis of Immunodeficiency

Immunodeficiency disorders can be challenging to diagnose, as they often present with non-specific symptoms that can mimic other conditions. A differential diagnosis is a process of ruling out other possible causes of a patient's symptoms before arriving at a definitive diagnosis.

Common Differential Diagnoses for Immunodeficiency

Some common differential diagnoses for immunodeficiency include:

• Bacterial infections: Pneumonia, meningitis, otitis, diarrhea, urinary sepsis, and septicemia are all potential differential diagnoses for immunodeficiency.
• Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and Hashimoto's thyroiditis can be mistaken for immunodeficiency.
• Cancer: Certain types of cancer, such as lymphoma or leukemia, can also present with symptoms similar to immunodeficiency.

Laboratory Tests to Rule Out Differential Diagnoses

To rule out these differential diagnoses, various laboratory tests may be performed. These include:

• Complete blood count (CBC) with manual differential
• Quantitative immunoglobulin (Ig) measurements
• Antibody titers
• Skin testing for delayed hypersensitivity

Specific Conditions to Consider

Some specific conditions that should be considered in the differential diagnosis of immunodeficiency include:

• Common Variable Immunodeficiency (CVID): A disorder characterized by low levels of most or all of the immunoglobulin (Ig) classes, a lack of B lymphocytes or plasma cells capable of producing antibodies, and frequent bacterial infections.
• Severe Combined Immunodeficiency Disease (SCID): The most severe expression among the combined immunodeficiency disorders, characterized by an onset of clinical manifestations before 6 months of age.

References

[1] Context result 3 mentions that CVID is a disorder that involves low levels of most or all of the immunoglobulin (Ig) classes, a lack of B lymphocytes or plasma cells capable of producing antibodies, and frequent bacterial infections. [Context result 3]

[2] Context result 15 states that Common Variable Immune deficiency (CVID) is a severe form of primary antibody deficiency with heterogeneous phenotypes and etiologies. [Context result 15]

Note: The numbers in brackets refer to the context results listed at the end of the conversation.