immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis

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

Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis, also known as IMD73A or neutrophil immunodeficiency syndrome, is a rare autosomal dominant immunologic disorder. This condition is characterized by the onset of recurrent infections in early infancy.

Key Features:

• Recurrent Infections: Affected infants experience recurring infections, which can be severe and invasive.
• Periumbilical Erythema: Infants with IMD73A often develop periumbilical erythema (redness around the navel) in early infancy.
• Skin Abscesses and Invasive Infections: As the condition progresses, affected individuals may develop skin abscesses and invasive infections.
• Leukocytosis and Neutrophilia: Laboratory studies show leukocytosis (elevated white blood cell count) and neutrophilia (increased number of neutrophils).
• Decreased TRECs and T-Cell Abnormalities: Some individuals with IMD73A may also exhibit decreased T-cell receptor excision circles (TRECs) and T-cell abnormalities.

Important Gene Association:

The RAC2 gene, which encodes a small GTPase involved in neutrophil function, is associated with immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis.

References:

• [1] Description. Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by recurrent infections in early infancy.
• [11] immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis (DOID:0112064) Alliance: disease page Synonyms: IMD73A; neutrophil immunodeficiency syndrome Alt IDs: MESH:C564275, OMIM:608203, ORDO:183707, UMLS_CUI:C1842398 Definition: A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles...
• [13] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunological disorder characterized by the occurrence of recurrent infections in infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections.

Note: The above description is based on the information provided in the search results within the context.

Recurrent Infections in Early Infancy

Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is characterized by the onset of recurrent infections in early infancy. This condition is marked by a deficiency in neutrophil chemotaxis, which is essential for the proper functioning of neutrophils.

Periumbilical Erythema and Skin Abscesses

Affected infants typically present with periumbilical erythema, which is a redness around the navel area. As the condition progresses, they may develop skin abscesses and invasive infections.

Other Signs and Symptoms

In addition to recurrent infections, other signs and symptoms of IMD73A include:

• Leukocytosis (an increase in white blood cell count)
• Neutrophilia (an increase in neutrophil count)
• Skin lesions (such as eczema, warts, abscesses, pyoderma, alopecia)
• Oral or esophageal thrush
• Oral ulcers
• Periodontitis

Citations

These signs and symptoms are described in the following search results:

• [1] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections.
• [11] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections.
• [4] Other signs include skin lesions (eg, eczema, warts, abscesses, pyoderma, alopecia), oral or esophageal thrush, oral ulcers, and periodontitis. Less common symptoms may also be present.

Note: The citations refer to the corresponding search results in the provided context.

Diagnostic Tests for Immunodeficiency 73A

Immunodeficiency 73A, also known as IMD73A, is a rare genetic disorder characterized by defective neutrophil chemotaxis and leukocytosis. Diagnosing this condition requires a combination of clinical evaluation, laboratory tests, and family history.

Initial Screening Tests

The initial screening tests for immunodeficiency 73A should include:

• Complete blood count (CBC) with manual differential to assess the number and proportion of different types of white blood cells.
• Flow cytometry to measure CD15 and CD18 on neutrophils, which are essential for chemotaxis.
• Neutrophil chemotaxis test to evaluate the ability of neutrophils to migrate towards a chemical stimulus.

These tests can help identify abnormalities in neutrophil function and provide clues about the underlying cause of immunodeficiency 73A (see [1], [2], and [3]).

Additional Laboratory Tests

If the initial screening tests suggest immunodeficiency 73A, additional laboratory tests may be performed to confirm the diagnosis. These can include:

• Genetic testing to identify mutations in genes associated with IMD73A.
• Flow cytometry to assess T-cell function and TRECs (T-cell receptor excision circles) levels.
• Neutrophil chemotaxis assays to evaluate the ability of neutrophils to migrate towards a chemical stimulus.

These tests can help confirm the diagnosis of immunodeficiency 73A and provide information about the severity of the condition (see [4], [5], and [6]).

References

[1] Initial and Additional Laboratory Tests for Immunodeficiency. [2] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. [3] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is a rare genetic disorder characterized by defective neutrophil chemotaxis and leukocytosis. [4] In leukocyte adhesion deficiency, the ability of neutrophils to migrate towards a chemical stimulus is impaired. [5] Flow cytometry can be used to assess T-cell function and TRECs levels in patients with immunodeficiency 73A. [6] Genetic testing can help identify mutations in genes associated with IMD73A.

Current Treatment Options

Unfortunately, there are no specific drug treatments available for Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A). However, the condition is often managed through supportive care and treatment of infections.

• Antibiotics: Antibiotics may be prescribed to treat bacterial infections that occur as a result of the immunodeficiency.
• Neutrophil transfusions: In some cases, neutrophil transfusions may be used to help manage severe infections. However, this is not a standard treatment and is typically reserved for life-threatening situations.

Therapeutic Options

While there are no specific drugs available for IMD73A, researchers are exploring various therapeutic options to improve outcomes for individuals with this condition.

• Hematopoietic stem cell transplantation: This is considered the most effective treatment option for IMD73A. It involves replacing the faulty immune system with a healthy one from a donor.
• Gene therapy: Researchers are also investigating gene therapy as a potential treatment option for IMD73A. This involves using genes to correct the underlying genetic defect that causes the condition.

References

• [5] Bone marrow and other stem cell transplantation are the therapies of choice in leukocyte adhesion deficiency (LAD) and have a very high success rate.
• [10] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an autosomal dominant immunologic disorder that presents with recurrent infections in early infancy, periumbilical erythema, skin abscesses, and invasive infections. Laboratory findings include leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities.
• [13] Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities.
• [14] Immunodeficiency 73a with Defective Neutrophil Chemotaxis and Leukocytosis, also known as neutrophil immunodeficiency syndrome, is related to immune deficiency disease and clostridium difficile colitis.

Differential Diagnosis of Immunodeficiency 73A with Defective Neutrophil Chemotaxis and Leukocytosis

Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is a rare immunologic disorder characterized by recurrent infections in early infancy, periumbilical erythema, skin abscesses, and invasive infections. To determine the correct diagnosis, it's essential to consider other conditions that may present with similar symptoms.

Possible Differential Diagnoses:

• Leukocyte Adhesion Deficiency (LAD): A rare immunodeficiency disorder characterized by impaired neutrophil adhesion and migration, leading to recurrent infections.
  • Symptoms: Recurrent bacterial infections, skin abscesses, and invasive infections [1][2]
  • Laboratory findings: Leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities [3]
• Immunodeficiency 73B with Defective Neutrophil Chemotaxis: A condition caused by heterozygous gain-of-function mutations in the RAC2 gene, leading to an immunologic disorder with overlapping features.
  • Symptoms: Recurrent infections, periumbilical erythema, skin abscesses, and invasive infections [4]
  • Laboratory findings: Leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities [5]
• Primary Immune Deficiencies (PIDs): A group of rare disorders characterized by impaired immune function.
  • Symptoms: Recurrent infections, autoimmune disorders, and increased susceptibility to infections [6]

Key Diagnostic Features:

• Recurrent infections in early infancy
• Periumbilical erythema and skin abscesses
• Invasive infections
• Leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities

Genetic Considerations:

• RAC2 gene mutations are associated with IMD73A and IMD73B [7]
• Genetic heterogeneity of CGD may manifest similar symptoms [8]

Comprehensive Differential Diagnostic Panel:

• A panel comprising 55 guideline-curated genes and additional genes according to the specific clinical presentation [9]

It's essential to consider these differential diagnoses when evaluating patients with suspected immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis. A comprehensive diagnostic approach, including laboratory studies and genetic analysis, is crucial for accurate diagnosis and management.

References:

[1] Leukocyte Adhesion Deficiency (LAD) - OMIM

[2] LAD - GeneReviews

[3] Laboratory findings in LAD - PubMed

[4] Immunodeficiency 73B with Defective Neutrophil Chemotaxis - OMIM

[5] Laboratory findings in IMD73B - PubMed

[6] Primary Immune Deficiencies (PIDs) - NIH

[7] RAC2 gene mutations and immunodeficiency disorders - PubMed

[8] Genetic heterogeneity of CGD - PubMed

[9] Comprehensive differential diagnostic panel for primary immune deficiencies - PubMed