immunodeficiency 71

Immunodeficiency 71 (IMD71) Description

Immunodeficiency 71, also known as IMD71, is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood [1][2]. This condition is caused by a defect in the immune system's ability to fight off infections, making individuals susceptible to bacterial and viral infections.

Key Features

• Recurrent infections
• Inflammatory features such as:
  • Vasculitis (inflammation of blood vessels)
  • Eczema (skin inflammation)
• Thrombocytopenia (low platelet count) [12]
• Impaired neutrophil and T-cell chemotaxis (ability to attract immune cells to the site of infection)

Genetic Basis

IMD71 is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [4][13]. The genetic basis of IMD71 involves defects in genes related to immune function.

References

[1] Description. Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses.

[2] Immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia (IMD71) is an autosomal recessive immunologic disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood. Infectious agents include bacteria and viruses.

[12] Laboratory findings are variable, but usually show thrombocytopenia ...

[4] Disease - Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia. Download. View proteins. Definition. An autosomal recessive disorder characterized by the onset of recurrent infections and inflammatory features such as vasculitis and eczema in infancy or early childhood.

Note: The references provided are a selection from the search results and are intended to support the information presented above.

Immunodeficiency Signs and Symptoms

Immunodeficiency disorders can manifest in various ways, making it essential to be aware of the common signs and symptoms. Here are some of the key indicators:

• Frequent Infections: People with immunodeficiency disorders are more prone to infections, such as pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections [1][2].
• Inflammation and Infection of Internal Organs: Immunodeficiency can lead to inflammation and infection of internal organs, including the spleen, liver, or lymph nodes [3][4].
• Recurrent Pneumonia and Bronchitis: Frequent bouts of pneumonia and bronchitis are common symptoms of immunodeficiency disorders [5][6].
• Ear and Sinus Infections: Ear infections (more than 2 in a year) and sinus infections (more than 2 in a year, without allergies) can be indicative of an immunodeficiency disorder [7][8].
• Meningitis and Skin Infections: Meningitis and skin infections are also common symptoms of immunodeficiency disorders [9][10].
• Thrush and Fungal Infections: Thrush (a fungal infection of the mouth or skin) can be an early sign of an immunodeficiency disorder [11].
• Fatigue and Joint/Muscle Ache: Feeling extremely tired, like when you have the flu, could mean something's going on with your body's defenses. Sleep is unlikely to help, and joints or muscles can ache too [12].

If you experience two or more of these signs, it's essential to consult a doctor about a possible Primary Immunodeficiency disorder.

References:

[1] Signs and symptoms differ depending on the type of primary immunodeficiency disorder, and they vary from person to person. [2] Immunodeficiency disorders prevent your body from fighting infections and diseases. [3] Inflammation and infection of internal organs [4] Swollen spleen, liver, or lymph nodes (splenomegaly, hepatomegaly, or lymphadenopathy). [5] Repeated bouts of pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections. [6] Four or more new ear infections within one year; Two or more months on antibiotics with no improvement. [7] Two or more new ear infections within 1 year; Two or more new sinus infections within 1 year, in the absence of allergy; [8] One pneumonia per year for more than 1 year; Chronic diarrhea with weight loss. [9] Signs and symptoms can include: Repeated bouts of pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections. Inflammation/... [10] Meningitis [11] Thrush (a fungal infection of the mouth or skin) [12] Fatigue. Feeling extremely tired, like you do when you have the flu, could mean something’s going on with your body’s defenses.

Diagnostic Tests for Immunodeficiency

Immunodeficiency can be challenging to diagnose, but various tests can help confirm the condition. Here are some common diagnostic tests used to identify 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 [2].
• Complete Blood Count (CBC): A CBC with manual differential is an initial screening test that can detect abnormalities in blood cells characteristic of specific immunodeficiency disorders [3].
• Quantitative Immunoglobulin (Ig) measurements: This test measures the levels of immunoglobulins in the blood, which can help diagnose immunodeficiency [2].
• Antibody titers: Antibody titers measure the level of antibodies in the blood and can be used to diagnose immunodeficiency [3].
• Skin testing for delayed hypersensitivity: This test measures the body's ability to respond to certain substances, which can help diagnose immunodeficiency [3].

In addition to these tests, genetic testing is also available to identify known mutations causing various types of immunodeficiency. Genetic sequencing can be used to identify specific gene mutations that may be contributing to the condition [1].

It's worth noting that detecting primary immunodeficiency (PI) can be challenging because it typically manifests through a variety of chronic illnesses. Once PI is suspected as the underlying cause, there are three main ways to test for and diagnose it: laboratory testing, newborn screening, and genetic inheritance/familial history [4].

References

[1] Immune Deficiency Foundation. (n.d.). Genetic Testing.

[2] The Immune Deficiency Foundation. (n.d.). Blood Tests.

[3] Initial and Additional Laboratory Tests for Immunodeficiency. (n.d.).

[4] Detecting primary immunodeficiency (PI) can be challenging because it typically manifests through a variety of chronic illnesses. Once PI is suspected as the underlying cause, there are three main ways to test for and diagnose it: laboratory testing, newborn screening, and genetic inheritance/familial history.

Treatment Options for Immunodeficiency Disorders

Immunodeficiency disorders can be treated using various medications and therapies, depending on the underlying cause and severity of the condition.

• Immunoglobulin Replacement Therapy: This is a common treatment option for people with primary immunodeficiency (PI) or secondary immunodeficiency. It involves administering antibodies (immunoglobulins) to help fight infections. According to [4], in 2020-2021, 7275 people with immunodeficiency were prescribed immunoglobulin therapy.
• Gene Therapy: This type of treatment involves using 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. Gene therapy can be a promising option for people with severe antibody deficiency due to either having a primary or secondary immunodeficiency [3].
• Stem Cell Transplantation: In some cases, stem cell transplantation may be recommended as a treatment option for people with primary immunodeficiency. This involves replacing the person's own immune system with a healthy one from a donor.
• Corticosteroids: Corticosteroids are sometimes used to treat associated health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions [8].
• Rituximab: Rituximab has been used to treat associated hemolytic anemia in some cases of primary immunodeficiency. However, its use is still being evaluated [7].

It's essential to note that individual risks and benefits should be discussed with a healthcare provider before starting any treatment.

References:

[3] 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.

[4] In 2020-2021, *7275 people with immunodeficiency were prescribed immunoglobulin therapy.

[7] Jun 8, 2022 — Treatment with rapamycin has been suggested, but this therapy awaits proper evaluation. Rituximab has been used to treat associated hemolytic anemia in some cases of primary immunodeficiency.

[8] Mar 31, 2024 — Corticosteroids; Medicines used to treat health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions

Immunodeficiency Differential Diagnoses

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 list of potential causes for the patient's symptoms, which helps healthcare providers narrow down the possible underlying conditions.

Common Differential Diagnoses for Immunodeficiency:

• Bacterial infections: Pneumonia, meningitis, otitis, diarrhea, urinary sepsis, and septicemia are all common bacterial infections that can be associated with immunodeficiency.
• Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and Hashimoto's thyroiditis can also be considered in the differential diagnosis of immunodeficiency.
• Primary B-cell disorders: Common variable immunodeficiency (CVID) is a primary humoral immunodeficiency disorder characterized by reduced serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA) or immunoglobulin M (IgM).
• Severe combined immunodeficiency disease (SCID): SCID is the most severe expression among the combined immunodeficiency disorders, with bacterial, viral, fungal, and protozoal infections occurring by 6 months of age or before.
• Monoclonal gammopathy: Elevated monoclonal protein levels can be associated with conditions such as multiple myeloma or Waldenström's macroglobulinemia.

Other Conditions to Consider:

• Atopic dermatitis
• Cartilage-Hair Hypoplasia
• Complement deficiencies
• Congenital TORCH (Toxoplasma, Rubella, Cytomegalovirus, and Herpes simplex virus) infections
• Hereditary hemochromatosis

References:

[1] Common variable immunodeficiency disorder (CVID) is diverse, both in its clinical presentation and in the types of deficiency. It is a primary humoral immunodeficiency disorder characterized by reduced serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, enhanced risk of ...

[2] Severe combined immunodeficiency disease (SCID) is the most severe expression among the combined immunodeficiency disorders. The onset of the clinical manifestations occurs by 6 months of age or before, with bacterial, viral, fungal and protozoal infections.

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