immunodeficiency 15B

Immunodeficiency 15B (IMD15B) Overview

Immunodeficiency 15B, also known as IMD15B, is an autosomal recessive primary immunodeficiency disorder that affects individuals from infancy. This condition is characterized by severe life-threatening bacterial, fungal, and viral infections, leading to failure to thrive.

Key Features:

• Onset in Infancy: Symptoms of IMD15B typically manifest in the first few months or years of life.
• Severe Infections: Individuals with IMD15B are prone to severe and recurrent infections caused by bacteria, fungi, and viruses.
• Failure to Thrive: The condition leads to failure to gain weight and grow at a normal rate, indicating impaired overall health.
• Hypo- or Agammaglobulinemia: Laboratory studies show reduced levels of antibodies (immunoglobulins) in the blood, which is essential for fighting infections.

Additional Information:

IMD15B is caused by mutations in genes that affect the proper functioning of immune cells. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene to pass it on to their offspring.

References:

• [1] Description. Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional ...
• [3] Description. Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells. However, functional ...
• [10] immunodeficiency 15B (DOID:0111959) Alliance: disease page Synonyms: IMD15B Alt IDs: OMIM:615592, UMLS_CUI:C4747743 Definition: A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T ...

Recurrent Severe Infections in Infancy

Immunodeficiency-15B (IMD15B) is characterized by onset in infancy of life-threatening bacterial, viral, or fungal infections due to a weakened immune system. This condition leads to recurrent severe infections that can be difficult to treat.

• Early Onset: Affected individuals have onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life [4].
• Increased Susceptibility: Patients who have such defects often present with recurrent sinopulmonary infections, diarrhea, poor growth, and autoimmunity [5].

Common Infections

The types of infections in individuals with IMD15B can include:

• Recurrent pneumonia
• Bronchitis
• Sinus infections
• Ear infections
• Meningitis or skin infections

These infections can be severe and life-threatening if left untreated.

Other Symptoms

In addition to recurrent infections, patients with IMD15B may also experience other symptoms such as:

• Poor growth and development
• Autoimmunity (when the immune system attacks healthy tissues)
• Increased susceptibility to viral and fungal infections

It's essential to seek medical attention promptly if you suspect that you or your child has immunodeficiency-15B.

References: [4] - Context 4 [5] - Context 5

Diagnostic Tests for Immunodeficiency 15B

Immunodeficiency-15B (IMD15B) is a rare primary immunodeficiency disorder characterized by life-threatening infections and failure to thrive in infancy. Diagnostic tests play a crucial role in confirming the diagnosis of IMD15B.

Laboratory Tests

The following laboratory tests are used to diagnose IMD15B:

• Complete Blood Count (CBC): A CBC with manual differential is essential to evaluate the patient's overall blood cell count, including white blood cells, red blood cells, and platelets.
• Quantitative Immunoglobulin (Ig) Measurements: This test measures the levels of different types of immunoglobulins (IgA, IgM, IgG, and IgE) in the blood. Low or absent levels of these proteins can indicate an antibody deficiency.
• Antibody Titers: Antibody titers measure the level of antibodies against specific pathogens. Low or absent antibody titers can support the diagnosis of IMD15B.

Additional Tests

Other tests may be performed to rule out other conditions and confirm the diagnosis of IMD15B:

• Skin Testing for Delayed Hypersensitivity: This test evaluates the patient's ability to mount a delayed hypersensitivity response, which is essential for fighting infections.
• T Cell Receptor Excision Circle (TREC) Assay: TREC allows assessing the presence of naïve T cells that recently left the thymus. This test can help diagnose T cell-related immunodeficiencies.
• Killer Cell Immunoglobulin-like Receptor (KIRC) Assay: KIRC assesses the presence of immature B lymphocytes, which is essential for diagnosing certain types of immunodeficiency.

Genetic Testing

Genetic testing may also be performed to identify known mutations causing IMD15B. This test can help confirm the diagnosis and provide information on the underlying genetic cause of the disorder.

References:

• [1] by AS Grumach · 2021 · Cited by 19 — TREC allows assessing the presence of naïve T cells that recently left the thymus and KREC assesses the presence of immature B lymphocytes.
• [3] by AS Grumach · 2021 · Cited by 19 — The measurement of serum immunoglobulins is a screening test not only for antibody-mediated immunity, but also for some combined defects of B (...
• [11] 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
• [15] Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T cells.

Treatment Options for Immunodeficiency

Immunodeficiency can be treated with various medications, depending on the underlying cause and severity of the condition. Here are some treatment options:

• Immunoglobulin therapy: This is a common treatment for primary immunodeficiency, where antibodies are administered intravenously or subcutaneously to help fight infections.
  • According to result 5, immunoglobulin replacement therapy remains the main therapeutic tool for most patients with Immunodeficiency-Related Infections (IEI).
  • Result 9 states that primary immunodeficiency can be treated with immunoglobulin therapy (IVIg), which contains antibodies gathered from the plasma of healthy donors.
• Gene therapy: This is a newer treatment option for some types of primary immunodeficiency, where stem cells are taken from the person, corrected to produce normal antibodies, and then returned to the body via an intravenous infusion. Result 3 explains this process in more detail.
• Antiviral medications: For viral infections caused by immunodeficiency disorders, antiviral drugs such as oseltamivir and acyclovir may be prescribed. Result 13 mentions these medications as treatment options for viral infections.

Other Treatment Options

In addition to the above treatments, corticosteroids (e.g., result 8) and other immunosuppressive drugs may be used in some cases of immunodeficiency. However, these treatments should only be discussed with a healthcare provider, as they carry individual risks and benefits.

References:

• Result 5: Segundo GRS, et al. (2021). Immunoglobulin replacement therapy for Immunodeficiency-Related Infections.
• Result 9: Primary immunodeficiency treatment options.
• Result 13: Antiviral medications for viral infections caused by immunodeficiency disorders.

Note: The above information is based on the search results provided and may not be an exhaustive list of all possible treatments for immunodeficiency.

Immunodeficiency-15B (IMD15B) Differential Diagnosis

Immunodeficiency-15B (IMD15B) is an autosomal recessive primary immunodeficiency disorder, and its differential diagnosis involves a comprehensive evaluation to rule out other conditions that may present with similar symptoms. Here are some key points to consider:

• Primary immune deficiencies: IMD15B should be differentiated from other primary immune deficiency disorders, such as Combined Variable Immunodeficiency (CVID), which is characterized by low levels of immunoglobulins and impaired antibody responses [4].
• Autoimmune disorders: Conditions like Sjögren's syndrome can present with similar symptoms, including xerostomia (dry mouth) and hypogammaglobulinemia [3].
• Infectious diseases: IMD15B should be differentiated from infectious diseases that may cause immunodeficiency-like symptoms, such as HIV/AIDS or COVID-19 [10].
• Other genetic disorders: Conditions like severe combined immunodeficiency (SCID) can present with similar symptoms and should be ruled out in the differential diagnosis of IMD15B [5][6].

Key Diagnostic Criteria

The primary criteria for diagnosing CVID, which is closely related to IMD15B, include:

• Low serum levels of IgG, IgA, and/or IgM, greater than two standard deviations below the mean [7].
• Decreased T cells, low B cells, and low immunoglobulins [8].

Comprehensive Evaluation

A comprehensive differential diagnostic panel for primary immune deficiencies should be considered to rule out other conditions that may present with similar symptoms. This panel includes 55 guideline-curated genes and many additional genes according to the specific clinical presentation [2].

References:

[1] Driessen, G. (2011). Hypogammaglobulinemia: A review of the literature.

[2] Comprehensive differential diagnostic panel for primary immune deficiencies comprising 55 guideline-curated genes and many additional genes according to the ...

[3] Daniels, T. E. (2024). Evaluation, differential diagnosis, and treatment of xerostomia.

[4] Lawrence, M. G. (2022). Specific antibody deficiency is an immune deficiency defined by the presence of normal quantitative levels of immunoglobulins, but impaired antibody responses ...

[5] # T-, B+, NK- X-linked severe combined immunodeficiency (SCID) is caused by mutation in the gene encoding ...

[6] # A number sign (#) is used with this entry because T-, B+, NK- X-linked severe combined immunodeficiency (SCID) is caused by mutation in the gene encoding ...

[7] Oct 22, 2024 — The primary criteria for CVID diagnosis include: (a) low serum levels of IgG, IgA and/or IgM, greater than two standard deviations below the ...

[8] Apr 11, 2024 — Group 3 consisted of 44 patients grouped as combined immune deficiency (CID) based on decreased T cells, low B cells, low immunoglobulins, and ...

[9] A comprehensive differential diagnostic panel containing 1 guideline-curated core gene, 20 additional core candidate genes and altogether 37 curated genes ...

[10] Parekh, M. (2020). The purpose of this review is to discuss and differentiate typical imaging findings of COVID-19 from those of other diseases, which can appear similar in the ...