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WHIM syndrome 1
ICD-10 Codes
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Description
What is WHIM Syndrome?
WHIM syndrome, also known as Warts, Hypogammaglobulinemia, Infections, and Myelokathexis syndrome, is a rare primary immunodeficiency disorder. This condition affects the body's immune system, making it difficult for the body to fight off infections.
Characteristics of WHIM Syndrome
The symptoms of WHIM syndrome can vary from person to person, but common characteristics include:
- Warts: Many people with WHIM syndrome develop warts on their skin.
- Hypogammaglobulinemia: This refers to a low level of antibodies in the blood, which makes it harder for the body to fight off infections.
- Infections: People with WHIM syndrome are more prone to infections, particularly those caused by bacteria and viruses.
- Myelokathexis: This is a condition where there is an abnormal retention of neutrophils (a type of white blood cell) in the spleen.
Causes and Prevalence
WHIM syndrome is a congenital autosomal dominant immune deficiency, meaning it is inherited from one's parents. It is a rare condition, with only a few reported cases worldwide.
References:
- [1] WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition.
- [4] WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency
- [6] WHIM syndrome is an autosomal dominant disorder characterized by warts, hypogammaglobulinemia, infections, and myelokathexis.
- [7] WHIM Syndrome is a primary immunodeficiency disorder 2 , in which the immune system is not able to work properly due to a genetic cause.
Additional Characteristics
- Infections
- Hypogammaglobulinemia
- Warts
- Myelokathexis
Signs and Symptoms
Common Signs and Symptoms of WHIM Syndrome
WHIM syndrome, a rare primary immunodeficiency disorder, presents with several characteristic symptoms. The acronym WHIM stands for:
- Warts: Recurrent and persistent warts are a hallmark symptom of WHIM syndrome [2][3].
- Hypogammaglobulinemia: Low levels of immunoglobulins (antibodies) in the blood, making it difficult to fight off infections [4][5].
- Infections: Frequent and recurrent bacterial infections, such as pharyngitis, sinusitis, otitis, meningitis, and pneumonia, are common in individuals with WHIM syndrome [3][6].
- Myelokathexis: A condition characterized by the abnormal retention of neutrophils (a type of white blood cell) in the bone marrow, leading to neutropenia (low neutrophil count) [4].
Additional symptoms may include:
- Immune deficiency: The immune system's inability to work properly due to a genetic cause [6].
- Low immunoglobulins: Decreased levels of specific antibodies in response to vaccinations [5].
- Decreased specific antibody response to vaccinations: Individuals with WHIM syndrome may not respond well to vaccinations, making them more susceptible to infections [5].
These symptoms typically present during early childhood or adolescence and can vary in severity from person to person.
Additional Symptoms
- Immune deficiency
- Low immunoglobulins
- Decreased specific antibody response to vaccinations
- Recurrent and persistent warts
- Hypogammaglobulinemia (low levels of immunoglobulins)
- Frequent and recurrent bacterial infections
- Myelokathexis (abnormal retention of neutrophils in the bone marrow)
Diagnostic Tests
Diagnostic Tests for WHIM Syndrome
WHIM syndrome, a rare primary immunodeficiency disorder, can be challenging to diagnose due to its rarity and nonspecific symptoms. However, several diagnostic tests can help confirm the diagnosis.
- Genetic testing: Genetic tests can identify pathogenic variants in the CXCR4 gene, which is responsible for WHIM syndrome [1]. This test can be performed on a blood sample or other tissues.
- Prenatal testing: If there is a family history of WHIM syndrome, prenatal testing by amniocentesis or chorionic villus sampling may be possible to detect the condition in an unborn child [3].
- Clinical evaluation: A thorough clinical evaluation, including a detailed patient history and physical examination, can help identify characteristic symptoms of WHIM syndrome [8]. However, unless there are obvious signs such as warts, physical exam will not likely yield a diagnosis [5].
It's worth noting that establishing care with an engaged and dedicated healthcare provider is crucial for individuals with rare diseases like WHIM syndrome. A diagnostic journey may take several years, but with the right support, patients can receive an accurate diagnosis and begin treatment [6].
Treatment options: While not directly related to diagnostic tests, it's essential to mention that treatment of WHIM syndrome may include immunoglobulin replacement therapy, granulocyte colony-stimulating factor (G-CSF), or granulocyte macrophage colony-stimulating factor (GM-CSF) [7].
Additional Diagnostic Tests
- Clinical evaluation
- Genetic testing
- Prenatal testing
Treatment
Treatment Options for WHIM Syndrome
WHIM syndrome, also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, is a rare immunodeficiency disorder that affects the body's ability to fight off infections. While there are no specific treatments available for WHIM syndrome, researchers have identified some potential therapeutic options.
- Mavorixafor (Xolremdi): The U.S. Food and Drug Administration has approved mavorixafor capsules as a once-daily oral treatment for patients 12 years of age and older with WHIM syndrome [6][10]. This medication works by increasing the mobilization and trafficking of white blood cells from the bone marrow into the bloodstream, allowing the body to better fight off infections.
- Plerixafor: Plerixafor has been shown to reduce neutropenia and lymphopenia in patients with WHIM syndrome [5][8]. However, its use
Recommended Medications
- Mavorixafor (Xolremdi)
- plerixafor
- Plerixafor
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of WHIM syndrome includes other inherited neutropenias, such as severe congenital neutropenia and cyclic neutropenia, autoimmune neutropenia, and myelodysplastic syndromes. These conditions can present with similar symptoms to WHIM syndrome, including recurrent infections and low white blood cell counts.
- Other inherited neutropenias:
- Severe congenital neutropenia: This condition is characterized by a significant reduction in the number of white blood cells from birth, leading to recurrent infections.
- Cyclic neutropenia: This is a rare condition where the white blood cell count fluctuates between normal and low levels, often resulting in recurrent infections.
- Autoimmune neutropenia: This is a condition where the immune system attacks and destroys white blood cells, leading to low counts and increased risk of infections.
- Myelodysplastic syndromes: These are a group of disorders that affect the production of white blood cells, red blood cells, and platelets in the bone marrow.
These conditions can be distinguished from WHIM syndrome through various diagnostic tests, including:
- Bone marrow cytology: This test examines the bone marrow for abnormalities, such as myelokathexis (retention of neutrophils in the bone marrow), which is a hallmark of WHIM syndrome.
- Molecular analysis: Genetic testing can identify specific mutations or abnormalities that are associated with WHIM syndrome.
It's essential to note that differential diagnosis is crucial in accurately diagnosing WHIM syndrome, as it requires distinguishing it from other conditions that may present with similar symptoms. [1][2][3][4]
Additional Differential Diagnoses
- immunodeficiency with hyper IgM type 5
- severe congenital neutropenia 1
- Rare condition where white blood cell count fluctuates between normal and low levels, often resulting in recurrent infections
- Autoimmune neutropenia
- Condition where immune system attacks and destroys white blood cells, leading to low counts and increased risk of infections
- Group of disorders affecting production of white blood cells, red blood cells, and platelets in bone marrow
- severe congenital neutropenia
- Myelodysplastic syndromes
- Other inherited neutropenias
- Characterized by significant reduction in white blood cells from birth, leading to recurrent infections
- Cyclic neutropenia
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.