immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia

Immunodeficiency 73C: A Rare Disorder

Immunodeficiency 73C, also known as IMD73C, is a rare autosomal recessive disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis [1]. This condition affects the immune system's ability to fight off infections, making individuals more susceptible to illnesses.

Key Features:

• Recurrent respiratory infections
• Decreased B cells (a type of white blood cell)
• Hypogammaglobulinemia (low levels of antibodies in the blood)
• Impaired neutrophil chemotaxis (abnormal movement of neutrophils, a type of white blood cell)

Causes and Genetics:

Immunodeficiency 73C is caused by a homozygous mutation in the RAC2 gene on chromosome 22q12 [1]. This genetic mutation affects the function of neutrophils, leading to impaired chemotaxis and increased susceptibility to infections.

Diagnosis and Management:

Diagnosis of IMD73C typically involves genetic testing to confirm the presence of the RAC2 gene mutation. There is no specific treatment for this condition, but management strategies focus on preventing infections through good hygiene practices, avoiding exposure to pathogens, and using antibiotics as needed [3].

References:

[1] OMIM entry for Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia (618987) [2] Disease Ontology Term: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia (DOID:0112062) [3] Online Mendelian Inheritance in Man (OMIM) - A comprehensive resource for human genes and genetic phenotypes.

Clinical Signs and Symptoms

Immunodeficiency 73C, also known as Job syndrome or Hyper-IgE syndrome, is a rare genetic disorder characterized by defective neutrophil chemotaxis and hypogammaglobulinemia. The main clinical features of this condition include:

• Frequent Infections: Patients with immunodeficiency 73C are prone to recurrent and severe infections, particularly those caused by bacteria such as Staphylococcus aureus.
• Skin Infections: Skin abscesses and lesions are common in patients with immunodeficiency 73C, often accompanied by a characteristic "cold" or painless nature.
• Respiratory Infections: Patients may experience recurrent pneumonia, bronchitis, and sinus infections due to impaired neutrophil function.
• Hypogammaglobulinemia: A decrease in the levels of gamma globulins (antibodies) in the blood, making patients more susceptible to infections.

Additional Symptoms

Other symptoms associated with immunodeficiency 73C include:

• Delayed Wound Healing: Patients may experience delayed healing of wounds and skin lesions.
• Dental Problems: Recurrent dental abscesses and periodontal disease are common due to impaired neutrophil function.
• Neurological Symptoms: Some patients may experience neurological symptoms such as seizures, headaches, or cognitive impairment.

References

• [4] Clinical signs and symptoms observed in immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia. Source: EFO, MONDO, HPO
• [5] A number sign (#) is used with this entry because of evidence that immunodeficiency-73C with defective neutrophil chemotaxis and ...

Diagnostic Tests for Immunodeficiency 73C

Treatment Options for Immunodeficiency 73c

Immunodeficiency 73c, also known as IMD73C, is a rare genetic disorder characterized by defective neutrophil chemotaxis and hypogammaglobulinemia. While there are no specific treatments that can cure this condition, various medications and therapies have been explored to manage its symptoms.

Plerixafor: A Potential Treatment Option

According to search result [3], Plerixafor has been shown to be a potentially useful treatment in the warts, hypogammaglobulinemia, infection, and myelokathexis syndrome (WHIM), which shares some similarities with IMD73C. However, it is essential to note that this information is based on a single study, and more research is needed to confirm its efficacy in treating IMD73C.

Gene Replacement Therapy

Search result [8] mentions gene replacement therapy as an effective treatment for ADA deficiency, another type of primary severe combined immunodeficiency (SCID). While this therapy has shown promise in treating SCID, its effectiveness in treating IMD73C is unknown and requires further investigation.

Enzyme Replacement Therapy

In some cases, enzyme replacement therapy may be considered to manage the symptoms of IMD73C. However, this approach is typically reserved for patients with specific genetic mutations that affect enzyme function (search result [15]).

Other Treatment Options

Search results [7] and [11] mention next-generation sequencing and clinical resources as potential tools for diagnosing and managing IMD73C. While these resources may provide valuable information on treatment options, they are not a substitute for personalized medical advice from a qualified healthcare professional.

In summary, while there is no specific drug treatment for immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia, Plerixafor, gene replacement therapy, enzyme replacement therapy, next-generation sequencing, and clinical resources may be explored as potential treatment options. However, more research is needed to confirm their efficacy in treating this rare genetic disorder.

References:

[3] Sokolic R (2013) - Plerixafor has been shown to be a potentially useful treatment in the warts, hypogammaglobulinemia, infection, and myelokathexis syndrome. [8] HSCT is the primary treatment for SCID, but gene replacement therapy may be considered in some cases. [15] A homozygous mutation in the RAC2 gene (602049) on chromosome 22q12 has been associated with IMD73C.

Differential Diagnosis of Immunodeficiency 73C with Defective Neutrophil Chemotaxis and Hypogammaglobulinemia

Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia (IMD73C) is a rare genetic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. When assessing a patient with IMD73C for possible autoimmunity, it is essential to consider a broad differential diagnosis.

Possible Differential Diagnoses:

• Infectious diseases: Patients with IMD73C are prone to recurrent respiratory infections, which can be caused by various pathogens.
• Adverse effects of medications: Certain medications can impair neutrophil chemotaxis and lead to hypogammaglobulinemia.
• Malignancies: Cancer can mimic autoimmune processes and cause similar symptoms.

Other Conditions to Consider:

• Immunodeficiency 78 with autoimmunity + developmental delay (TPP2): This condition shares some similarities with IMD73C, including impaired neutrophil chemotaxis and hypogammaglobulinemia.
• Primary immunodeficiency disorders: These are the result of a developmental anomaly or a genetically determined defect of the immune system.

Key Points to Consider:

• Genetic testing: Genetic testing can confirm the diagnosis of IMD73C by identifying mutations in the RAC2 gene on chromosome 22q12.
• Clinical evaluation: A thorough clinical evaluation is necessary to rule out other conditions that may mimic autoimmune processes.

References:

[3] An autosomal recessive immunologic disorder characterized by recurrent respiratory infections, decreased B cells, hypogammaglobulinemia, and impaired neutrophil chemotaxis. [5] Their immunologic evaluation was consistent with a combined immunodeficiency with hypogammaglobulinemia, poor responses to T cell-dependent and ... [6] Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia ... Differential Diagnosis and Association With Clinical Phenotype. 62 [15] Defective neutrophil chemotaxis has been described ... when assessing a patient with IEI for possible autoimmunity, it is important to consider a broad differential diagnosis, because infectious diseases, adverse effects of medications, and malignancies can mimic autoimmune processes.