ICD-11 Codes
for 4A00.0Y - Other specified functional neutrophil defects

Teodor Jurukovski January 1, 1970

Fact checked by: Teodor Jurukovski

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Understanding Other Specified Functional Neutrophil Defects (ICD-11 Code 4A00.0Y)

Other specified functional neutrophil defects, identified by the ICD-11 code 4A00.0Y, represent a category of primary immunodeficiencies. These conditions arise from impairments in the functional capabilities of neutrophils, a critical type of white blood cell responsible for combating bacterial and fungal infections. While neutrophils are essential for innate immunity, defects in their function can lead to an increased susceptibility to infections. This specific ICD-11 classification encompasses various disorders where neutrophil function is compromised in ways not fully detailed by other specific codes within this block.

Signs and Symptoms Associated with Functional Neutrophil Defects

Individuals with functional neutrophil defects may present with a range of symptoms, often related to recurrent or persistent infections. Common clinical manifestations can include:

• Recurrent infections of the skin, ears, lungs, and lymph nodes.
• Chronic or severe bacterial infections.
• Persistent fungal infections, particularly Candida species.
• Inflammatory conditions such as granulomas.
• In some cases, patients may be largely asymptomatic, with the condition identified incidentally or during investigation for milder symptoms.

The severity and type of symptoms can vary significantly depending on the specific underlying defect.

What Causes Functional Neutrophil Defects?

Functional neutrophil defects are primarily genetic disorders, meaning they are inherited conditions caused by mutations in specific genes. These genetic alterations affect the development, production, or function of neutrophils. Key areas of dysfunction can include:

• Impaired ability to kill ingested microorganisms (e.g., defects in oxidative burst pathways).
• Problems with neutrophil migration or adhesion to sites of infection.
• Deficiencies in specific enzymes or proteins crucial for neutrophil function, such as myeloperoxidase.

While often inherited, the specific genetic cause dictates the precise nature of the neutrophil dysfunction.

Diagnosing Other Specified Functional Neutrophil Defects

The diagnosis of functional neutrophil defects involves a comprehensive evaluation by healthcare professionals. This typically includes:

• Detailed medical history, focusing on recurrent infections and family history.
• Physical examination to assess for signs of infection or inflammation.
• Laboratory testing is crucial and may involve:
  • Complete blood count (CBC) with differential.
  • Specific functional assays to evaluate neutrophil activity, such as the nitroblue tetrazolium (NBT) test or dihydrorhodamine (DHR) flow cytometry for assessing the oxidative burst, and myeloperoxidase (MPO) activity assays.
  • Genetic testing may be used to identify specific gene mutations.

Accurate diagnosis is essential for appropriate management and coding, using the ICD-11 code 4A00.0Y when applicable.

Managing Functional Neutrophil Defects

Management strategies for functional neutrophil defects aim to prevent and treat infections, thereby improving patient outcomes. Treatment approaches are tailored to the specific defect and may include:

• Prophylactic medications, such as antibiotics and antifungals, to prevent infections.
• Prompt and aggressive treatment of active infections.
• Supportive care to manage inflammation and other complications.
• In some severe cases, advanced therapies like hematopoietic stem cell transplantation may be considered.

Consultation with specialists in immunology and infectious diseases is vital for optimal patient care.

Alternative Names for Functional Neutrophil Defects

Other specified functional neutrophil defects (ICD-11 code 4A00.0Y) are often referred to by various clinical synonyms and related conditions. These include:

• Chronic Granulomatous Disease (CGD)
• Chronic Septic Granulomatosis
• Myeloperoxidase Deficiency (MPO Deficiency)
• Leukocyte Adhesion Deficiency (LAD)
• Recurrent Infection due to Specific Granule Deficiency
• Congenital Dysphagocytosis

Understanding these terms is important for comprehensive medical documentation and accurate coding.