leukocyte adhesion deficiency

Leukocyte Adhesion Deficiency (LAD): A Rare Immunodeficiency Disorder

Leukocyte adhesion deficiency, also known as LAD, is a rare inherited immunodeficiency disorder that affects the body's ability to fight infections. This condition is characterized by defects in the leukocyte adhesion process, which impairs the white blood cells' ability to migrate from circulation into tissues and kill foreign invaders.

Key Features of LAD:

• Immunodeficiency: Individuals with LAD have a weakened immune system that makes them more susceptible to infections.
• Recurrent Infections: People with LAD experience frequent soft-tissue infections, gum inflammation, and tooth loss due to the inability of white blood cells to enter infection sites and kill bacteria.
• White Blood Cell Dysfunction: The condition is caused by defects in adhesion molecules on the surface of white blood cells, which impairs their ability to attach to blood vessels and foreign cells.

Causes and Symptoms:

• Genetic Defect: LAD is inherited in an autosomal recessive manner, meaning that individuals must inherit two copies of the defective gene (one from each parent) to develop the condition.
• Recurrent Infections: Individuals with LAD experience frequent infections, including soft-tissue infections, gum inflammation, and tooth loss.
• Delayed Umbilical Cord Sloughing: One of the classic symptoms of LAD is a delay in umbilical cord sloughing.

Treatment and Management:

While there is no cure for LAD, treatment focuses on managing symptoms and preventing infections. This may include antibiotics, antifungal medications, and supportive care to manage complications. In some cases, individuals with LAD may require surgical interventions to address specific infections or complications.

References:

• [1] (Result 12) Leukocyte adhesion deficiency is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections.
• [2] (Result 3) In leukocyte adhesion deficiency, white blood cells are lacking one of several proteins on their surface that help the cells move and to attach (adhere) to blood vessels and foreign cells.
• [4] (Result 14) Leukocyte adhesion deficiency results from an adhesion molecule defect that causes granulocyte and lymphocyte dysfunction and recurrent soft-tissue infections.
• [5] (Result 9) Leukocyte adhesion deficiency is a primary immunodeficiency disorder involving both B and T cells and is characterized by an inability of leukocytes to migrate to the site of infection to kill offending microbes.

Common Signs and Symptoms of Leukocyte Adhesion Deficiency

Leukocyte adhesion deficiency (LAD) is a rare immunodeficiency disorder that affects the body's ability to fight infections. The symptoms of LAD usually begin in infancy and can be severe. Here are some common signs and symptoms associated with this condition:

• Recurrent or progressive soft-tissue infections: Infants with LAD often experience frequent infections in soft tissues, such as the gums, skin, and muscles.
• Periodontitis: Inflammation of the gums (periodontitis) is a common symptom of LAD.
• Poor wound healing: Wounds may not heal properly due to the body's inability to fight off infections.
• No pus formation: Unlike other types of infections, LAD does not typically result in pus formation.
• Leukocytosis: An increased number of white blood cells (leukocytes) is often present in individuals with LAD.
• Delayed umbilical cord detachment: The umbilical cord may take longer than usual to detach from the navel.

These symptoms can be severe and may require immediate medical attention. If you suspect that you or your child has LAD, it's essential to consult a healthcare professional for proper diagnosis and treatment.

References:

• [10] Symptoms of leukocyte adhesion deficiency usually begin in infancy.
• [11] Severely affected infants have recurrent or progressive necrotic soft-tissue infections with staphylococcal and gram-negative bacteria, periodontitis, poor wound healing, no pus formation, leukocytosis, and delayed ( > 3 weeks) umbilical cord detachment.
• [13] Symptoms and Signs of Leukocyte Adhesion Deficiency Manifestations of leukocyte adhesion deficiency usually begin in infancy.

Leukocyte Adhesion Deficiency (LAD) is a rare genetic disorder that affects the body's ability to fight infections. Diagnostic tests for LAD are crucial in confirming the diagnosis and ruling out other conditions.

Common Diagnostic Tests:

• Complete Blood Count (CBC): A CBC count typically reveals leukocytosis (WBC count >20 X 10^9/L) in the absence of infection [1].
• Flow Cytometry: Special blood tests, including analysis of proteins on the surface of white blood cells, are used to diagnose LAD-I and LAD-II. Flow cytometry should be performed for CD11a, CD11b, and CD18 phenotyping [6].
• Leukocyte Adhesion Deficiency Panel: This panel measures the receptors CD11a, CD15s, and CD18 normally found on neutrophils [2].

Other Diagnostic Tests:

• A complete blood count is done to check for any abnormalities in the white blood cell count.
• Specialized tests, such as flow cytometry, are used to analyze proteins on the surface of white blood cells.

Diagnostic Criteria: A diagnosis of LAD syndrome is based on thorough clinical evaluation, detailed patient history, identification of characteristic findings, and various tests [7]. The Leukocyte Adhesion Deficiency (LAD) Evaluation (CD15s, CD18), FC - LAD is an autosomal recessive immunodeficiency disorder associated with recurrent infections [8].

References: [1] Oct 9, 2019 — In leukocyte adhesion deficiency (LAD), the CBC count typically reveals leukocytosis (WBC count >20 X 10^9/L) in the absence of infection; ... [2] The Leukocyte Adhesion Deficiency Panel measures the receptors CD11a, CD15s, and CD18 normally found on neutrophils. [3] Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years CD11a, CD11b, and CD18 phenotyping. [4] Sep 13, 2022 — Information on the testing process, including sample requirements, lab method and turn-around time. [5] A complete blood count is done. Also, special blood tests, including analysis of proteins on the surface of white blood cells (called flow cytometry), are used ... [6] Diagnosis is based on the clinical symptoms and on a complete blood count revealing neutrophilia. In LAD-I and LAD-II, flow cytometry should be performed for ... [7] A diagnosis of LAD syndrome is based on thorough clinical evaluation, detailed patient history, identification of characteristic findings, and various tests ... [8] Leukocyte Adhesion Deficiency (LAD) Evaluation (CD15s, CD18), FC - LAD is an autosomal recessive immunodeficiency disorder associated with recurrent ...

Leukocyte adhesion deficiency (LAD) is a rare primary immunodeficiency that can be challenging to diagnose due to its similarity with other conditions. The differential diagnosis for LAD includes:

• IRAK-4 deficiency: A genetic disorder characterized by recurrent infections, inflammation, and impaired immune response.
• Autosomal dominant hyper IgE syndrome: A condition marked by elevated levels of immunoglobulin E (IgE) and increased susceptibility to skin and lung infections.
• Chronic granulomatous disease: A rare genetic disorder that affects the functioning of neutrophils, leading to recurrent infections and inflammation.
• Other primary immunodeficiencies: Such as Bruton's agammaglobulinemia, Wiskott-Aldrich syndrome, and severe combined immunodeficiency (SCID).
• Neutrophil dysfunction: A condition characterized by impaired neutrophil function, leading to increased susceptibility to infections.

These conditions can present with similar symptoms to LAD, such as recurrent infections, inflammation, and impaired immune response. Therefore, a comprehensive diagnostic workup is essential to distinguish LAD from these differential diagnoses [1][2][3].

In particular, IRAK-4 deficiency and autosomal dominant hyper IgE syndrome are often considered in the differential diagnosis of LAD due to their overlapping clinical features [4]. A detailed analysis of the patient's medical history, physical examination, laboratory results, and genetic evaluation is crucial for accurate diagnosis and management.

References:

[1] Cox DP, Weathers DR. Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature. [5]

[2] Dababneh R, Al-Wahadneh AM, Hamadneh S, et al. Periodontal manifestation of leukocyte adhesion deficiency type I. J Periodontol 2008; 79:764.

[3] Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. [6]

[4] Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling. [7]

[5] Cox DP, Weathers DR. Leukocyte adhesion deficiency type 1: an important consideration in the clinical differential diagnosis of prepubertal periodontitis. A case report and review of the literature.

[6] Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections.

[7] Early differential diagnosis of the patients is critical in the management of the disease and genetic evaluation provides a basis for family studies and genetic counseling.