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ICD Hub / Diseases of the immune system (D80–D89) / 4A00.2 - Genetic susceptibility to particular pathogens
ICD-11

ICD-11 Codes
for 4A00.2 - Genetic susceptibility to particular pathogens
Teodor Jurukovski January 1, 1970
Fact checked by: Teodor Jurukovski
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Understanding Genetic Susceptibility to Particular Pathogens

Genetic susceptibility to particular pathogens, identified by ICD-11 code 4A00.2, refers to an inherited predisposition that increases an individual's vulnerability to specific infectious agents. This category encompasses a group of conditions where genetic factors significantly influence the immune system's ability to defend against certain pathogens. These are often classified under primary immunodeficiencies, indicating an inherent defect in the immune response rather than an acquired one.

Underlying Causes and Genetic Predispositions

The primary cause of genetic susceptibility to particular pathogens lies in inherited genetic mutations. These mutations can affect various components of the immune system, impairing its function. Specific genetic defects are associated with this condition, including deficiencies in key proteins like interleukin-1 receptor-associated kinase-4 (IRAK4), interferon-gamma receptor 1 (IFNGR1), interferon-gamma receptor 2 (IFNGR2), interleukin 12 receptor beta-1 chain (IL12RB1), and signal transducer and activator of transcription 1 (STAT1). These genetic variations can manifest as autosomal recessive or autosomal dominant inheritance patterns.

Signs and Symptoms of Increased Susceptibility

Individuals with genetic susceptibility to particular pathogens often present with recurrent or severe infections. A hallmark presentation is an increased vulnerability to mycobacterial diseases, including those caused by Bacillus Calmette-Guérin (BCG) or atypical mycobacteria. Pyogenic bacterial infections are also common. Other manifestations can include monocytopenia, leading to susceptibility to infections, sometimes referred to as MonoMAC syndrome. The severity and specific types of infections depend on the underlying genetic defect.

Diagnostic Approaches for Genetic Susceptibility

Diagnosing genetic susceptibility to particular pathogens involves a multi-faceted approach. A thorough medical history, including a detailed family history, is crucial for identifying patterns suggestive of inherited conditions. Clinical examination and laboratory testing are essential. Genetic testing, including molecular testing, is often required to identify specific gene mutations or deficiencies that confirm the diagnosis. This ICD-11 code, 4A00.2, serves as a classification for these identified susceptibilities.

Managing Infections and Supporting Immunity

While most genetic disorders, including susceptibility to particular pathogens, cannot be cured by altering the underlying genetic mutation, management focuses on preventing and treating infections. This may involve prompt and aggressive treatment of infections with appropriate antimicrobial agents. For certain conditions, such as inborn errors of metabolism (though not the primary focus of 4A00.2, it illustrates genetic management principles), dietary modifications or enzyme replacement therapy can be beneficial. Supportive care and careful monitoring are key components of managing individuals with this condition. Research into gene therapy is ongoing for some genetic conditions. Genetic susceptibility to particular pathogens (ICD-11 code 4A00.2) is known by several other terms and is related to specific genetic conditions. These include Mendelian susceptibility to mycobacterial diseases (MSMD), both autosomal recessive (AR MSMD) and autosomal dominant (AD MSMD) forms. Other related terms and specific deficiencies include Idiopathic CD4 lymphocytopenia, immunodeficiency due to IRAK4 deficiency, and conditions related to IFNGR1, IFNGR2, IL12RB1, STAT1, and MyD88 deficiencies.

ICD-11 Coding for Genetic Susceptibility

The ICD-11 code for genetic susceptibility to particular pathogens is 4A00.2. This code falls under the broader category of Primary immunodeficiencies (4A00-4A0Z). When documenting patient cases, healthcare providers should use this specific code to accurately reflect the condition. Accurate coding is vital for billing, statistical reporting, and research purposes. Common clinical synonyms and specific genetic deficiencies associated with this code should be considered during the diagnostic process and for detailed documentation.

Frequently asked questions

What is the ICD-11 classification meaning of 'Genetic susceptibility to particular pathogens' (4A00.2)?
This code represents an inherited predisposition that increases an individual's risk of infection by specific pathogens.
How is the ICD-11 code 4A00.2 used in coding?
Code 4A00.2 is used to identify a genetic predisposition to infection by particular pathogens. Further specificity regarding the pathogen or the genetic defect can be achieved through post-coordination or by selecting more detailed codes if available within the ICD-11 classification.
Does ICD-11 distinguish between genetic susceptibility and an actual infection?
Yes, 'Genetic susceptibility to particular pathogens' (4A00.2) denotes the underlying genetic predisposition. A diagnosed infection resulting from such susceptibility would be coded separately according to the specific pathogen and clinical manifestation.
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