immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia

Immunodeficiency 73B with Defective Neutrophil Chemotaxis and Lymphopenia: A Rare Immunologic Disorder

Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia, also known as IMD73B, is a rare autosomal dominant immunologic disorder characterized by the onset of recurrent infections in infancy or early childhood. This condition affects individuals who develop respiratory infections, cellulitis, and severe invasive infections or sepsis due to impaired immune system function.

Key Features:

• Recurrent Infections: Affected individuals experience recurring respiratory infections, such as pneumonia, bronchitis, and sinusitis.
• Cellulitis and Sepsis: They are also prone to developing cellulitis (a bacterial skin infection) and severe invasive infections or sepsis due to impaired immune system

Immunodeficiency 73B with Defective Neutrophil Chemotaxis and Lymphopenia: Signs and Symptoms

Immunodeficiency-73B with defective neutrophil chemotaxis (IMD73B) is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood. The signs and symptoms of this condition can vary, but some common manifestations include:

• Recurrent Infections: Affected individuals may experience frequent infections, particularly those involving the skin, respiratory tract, and gastrointestinal system.
• Skin Lesions: Skin lesions such as abscesses, cellulitis, and pyoderma are common in patients with IMD73B. These lesions can be deep-seated and may not contain active neutrophils [13].
• Lymphopenia: A reduction in the number of lymphocytes (a type of white blood cell) is a hallmark of this condition.
• Neutrophil Chemotaxis Defects: The ability of neutrophils to migrate towards sites of infection is impaired, making it difficult for the body to fight off infections [13].
• Other Signs and Symptoms: Patients with IMD73B may also experience other symptoms such as failure to thrive, autoimmune disease, and recurrent episodes of sepsis.

It's essential to note that the severity and presentation of these signs and symptoms can vary widely among affected individuals. A proper diagnosis by a qualified healthcare professional is necessary for an accurate assessment and effective management of this condition.

References:

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Immunodeficiency 73B (IMD73B) Diagnostic Tests

IMD73B is an autosomal dominant immunologic disorder characterized by onset of recurrent infections in infancy or early childhood [4]. The diagnostic tests for IMD73B include:

• Complete Blood Count (CBC): A CBC with manual differential can help identify abnormalities in the blood cells, including neutrophil chemotaxis and lymphopenia [1].
• Flow Cytometry: This test measures the expression of specific markers on the surface of immune cells, such as CD15 and CD18, which are often abnormal in patients with IMD73B [1].
• Neutrophil Chemotaxis Test: This test assesses the ability of neutrophils to migrate towards a chemical stimulus, which is impaired in patients with IMD73B [9].
• Lymphocyte Count: A low lymphocyte count (lymphopenia) is a characteristic feature of IMD73B [7].

Genetic Testing

Molecular/genetic testing can be pursued to confirm the diagnosis of IMD73B. This involves analyzing the genes associated with inherited B-cell disorders and other immunodeficiencies [5, 10]. The genetic test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 61 genes associated with inherited B-cell disorders and other immunodeficiencies [5].

Other Diagnostic Tests

Additional laboratory tests may include:

• Immunoglobulin Subsets: Abnormalities in immunoglobulin subsets can be detected through various tests, including flow cytometry and ELISA [7].
• T-Cell Function Assays: These assays evaluate the function of T-cells, which are often impaired in patients with IMD73B [13].

It's essential to note that a comprehensive diagnostic workup for IMD73B may involve multiple tests and evaluations by various healthcare professionals. A definitive diagnosis can only be made through a combination of clinical evaluation, laboratory tests, and genetic analysis.

References:

[1] - Initial and Additional Laboratory Tests for Immunodeficiency [4] - Immunodeficiency 73B with defective neutroph

Treatment Options for Immunodeficiency 73B

Immunodeficiency 73B, also known as IMD73B, is a rare genetic disorder characterized by defective neutrophil chemotaxis and lymphopenia. While there are no specific treatments that can cure this condition, various therapies can help manage its symptoms and prevent complications.

Hematopoietic Stem Cell Transplantation (HSCT)

• HSCT is considered the main treatment for many types of primary SCID, including IMD73B [15].
• This procedure involves replacing the defective immune system with a healthy one from a donor.
• However, HSCT carries risks and complications, such as graft-versus-host disease.

Enzyme Replacement Therapy

• Enzyme replacement therapy can be effective in treating ADA deficiency, which is associated with IMD73B [15].
• This treatment involves replacing the deficient enzyme with a healthy one to restore normal immune function.
• However, its effectiveness may vary depending on individual cases.

Gene Replacement Therapy

• Gene replacement therapy has shown promise in treating genetic disorders like IMD73B [15].
• This approach involves replacing the defective gene with a healthy one to correct the underlying cause of the condition.
• Further research is needed to fully understand its potential and limitations.

Supportive Care

• Supportive care, such as antibiotics and antiviral medications, can help manage symptoms and prevent infections [7].
• Good hygiene practices, vaccination, and avoidance of crowded areas can also reduce the risk of infection.
• Regular monitoring by a healthcare provider is essential to ensure prompt treatment of any complications.

Current Research

• Researchers are exploring new treatments for IMD73B, including gene therapy and immunomodulatory agents [14].
• Next-generation sequencing has improved our understanding of the genetic basis of this condition, which may lead to more targeted therapies.
• Further studies are needed to fully understand the potential benefits and risks of these emerging treatments.

While there is no cure for IMD73B, various treatment options can help manage its symptoms and prevent complications. A healthcare provider can provide personalized guidance on the best course of action based on individual needs and circumstances.

Differential Diagnosis of Immunodeficiency 73B with Defective Neutrophil Chemotaxis and Lymphopenia

Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) is a rare autosomal dominant immunologic disorder characterized by recurrent infections in infancy or early childhood. To accurately diagnose IMD73B, it's essential to consider differential diagnoses that may present similar symptoms.

Possible Differential Diagnoses:

• Autosomal Dominant Neutrophil Immunodeficiency Syndrome (IMD73A): This condition is caused by a heterozygous loss-of-function mutation in the RAC2 gene on chromosome 22q13. While it shares some overlapping features with IMD73B, it's essential to distinguish between the two conditions based on specific clinical and genetic characteristics.
• Severe Combined Immunodeficiency (SCID): SCID is a group of rare disorders characterized by severe impairment of both T-cell and B-cell functions. While SCID can present with recurrent infections, it typically involves more profound lymphocytopenia than IMD73B [3].
• Phagocyte Defects: Phagocyte defects are mostly due to impairment of neutrophil chemotaxis by serum factors or impaired intracellular killing. These conditions may also present with recurrent infections and should be considered in the differential diagnosis of IMD73B [8].

Key Diagnostic Features:

To differentiate IMD73B from other immunodeficiencies, consider the following key features:

• Recurrent Infections: Affected individuals develop respiratory infections, cellulitis, and severe invasive infections or sepsis.
• Neutrophil Chemotaxis Defects: Neutrophils in patients with IMD73B have impaired chemotaxis, which contributes to recurrent infections.
• Lymphopenia: Patients with IMD73B typically present with lymphopenia.

Diagnostic Tools:

The Igenomix Severe Combined Immunodeficiency Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of early onset SCID and other immunodeficiencies, including IMD73B [7].

In conclusion, a comprehensive differential diagnostic panel should consider the specific clinical features and genetic characteristics of IMD73B to accurately diagnose this rare autosomal dominant immunologic disorder.

References:

[1] - [15] are citations from the provided context.