Leukocyte adhesion deficiency-1: Difference between revisions
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{{Infobox medical condition | {{SI}} | ||
{{Infobox medical condition | |||
| name = Leukocyte adhesion deficiency-1 | | name = Leukocyte adhesion deficiency-1 | ||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| image = | | caption = [[Autosomal recessive]] pattern is the mode of inheritance for Leukocyte adhesion deficiency-1 | ||
| | | field = [[Immunology]] | ||
| caption = Autosomal recessive is | | symptoms = [[Recurrent bacterial infections]], [[delayed wound healing]], [[periodontitis]] | ||
| complications = [[Sepsis]], [[chronic inflammation]] | |||
| field = | | onset = [[Infancy]] | ||
| duration = [[Lifelong]] | |||
| symptoms = | | causes = [[Genetic mutation]] in the [[ITGB2]] gene | ||
| complications = | | risks = [[Consanguinity]] | ||
| onset = | | diagnosis = [[Flow cytometry]], [[genetic testing]] | ||
| duration = | | differential = [[Chronic granulomatous disease]], [[Hyper-IgE syndrome]] | ||
| prevention = [[Genetic counseling]] | |||
| causes = | | treatment = [[Bone marrow transplant]], [[antibiotics]] | ||
| risks = | | prognosis = Variable, depends on treatment | ||
| diagnosis = | | frequency = Rare | ||
| differential = | |||
| prevention = | |||
| treatment = | |||
| prognosis = | |||
| frequency = | |||
}} | }} | ||
{{Short description|A rare immunodeficiency disorder}} | |||
'''Leukocyte adhesion deficiency-1''' ( | '''Leukocyte adhesion deficiency-1''' (LAD-1) is a rare [[immunodeficiency disorder]] characterized by the inability of [[leukocytes]] (white blood cells) to properly adhere to the [[endothelial cells]] of blood vessels. This defect impairs the normal migration of leukocytes to sites of infection, leading to recurrent bacterial infections and impaired wound healing. | ||
==Pathophysiology== | |||
LAD-1 is caused by mutations in the gene encoding the [[beta-2 integrin]] subunit, also known as [[CD18]]. This subunit is a critical component of the [[integrin]] family of adhesion molecules, which are essential for leukocyte adhesion and migration. The absence or dysfunction of CD18 results in the inability of leukocytes to adhere to the vascular endothelium, preventing their extravasation into tissues where they are needed to combat infections. | |||
==Clinical Features== | |||
Patients with LAD-1 typically present with recurrent bacterial infections, particularly of the skin and mucous membranes. Common infections include [[gingivitis]], [[periodontitis]], and [[skin abscesses]]. A hallmark feature of LAD-1 is the lack of pus formation at sites of infection, due to the impaired recruitment of neutrophils. | |||
== | Other clinical manifestations may include delayed separation of the [[umbilical cord]], poor wound healing, and severe [[periodontal disease]]. The severity of the condition can vary, with some patients experiencing life-threatening infections early in life. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of LAD-1 is based on clinical presentation, laboratory findings, and genetic testing. Laboratory tests typically reveal leukocytosis (an increased number of white blood cells) and the absence of CD18 expression on leukocytes, as determined by flow cytometry. Genetic testing can confirm mutations in the CD18 gene. | |||
==Treatment== | ==Treatment== | ||
Management of LAD-1 involves aggressive treatment of infections with appropriate [[antibiotics]] and supportive care. In severe cases, [[hematopoietic stem cell transplantation]] (HSCT) may be considered as a curative treatment option. Gene therapy is an emerging area of research for the treatment of LAD-1. | |||
== | ==Prognosis== | ||
The prognosis for individuals with LAD-1 depends on the severity of the condition and the availability of treatment. Early diagnosis and appropriate management of infections are crucial for improving outcomes. Patients with milder forms of the disease may have a better prognosis, while those with severe forms may experience life-threatening complications. | |||
==See also== | ==See also== | ||
*[[Leukocyte | * [[Immunodeficiency disorder]] | ||
* [[Leukocyte]] | |||
* [[Integrin]] | |||
* [[Hematopoietic stem cell transplantation]] | |||
[[Category:Immunodeficiency disorders]] | |||
[[Category:Genetic disorders]] | |||
[[ | |||
[[Category: | |||
[[Category: | |||
Latest revision as of 01:23, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Leukocyte adhesion deficiency-1 | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent bacterial infections, delayed wound healing, periodontitis |
| Complications | Sepsis, chronic inflammation |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the ITGB2 gene |
| Risks | Consanguinity |
| Diagnosis | Flow cytometry, genetic testing |
| Differential diagnosis | Chronic granulomatous disease, Hyper-IgE syndrome |
| Prevention | Genetic counseling |
| Treatment | Bone marrow transplant, antibiotics |
| Medication | N/A |
| Prognosis | Variable, depends on treatment |
| Frequency | Rare |
| Deaths | N/A |
A rare immunodeficiency disorder
Leukocyte adhesion deficiency-1 (LAD-1) is a rare immunodeficiency disorder characterized by the inability of leukocytes (white blood cells) to properly adhere to the endothelial cells of blood vessels. This defect impairs the normal migration of leukocytes to sites of infection, leading to recurrent bacterial infections and impaired wound healing.
Pathophysiology[edit]
LAD-1 is caused by mutations in the gene encoding the beta-2 integrin subunit, also known as CD18. This subunit is a critical component of the integrin family of adhesion molecules, which are essential for leukocyte adhesion and migration. The absence or dysfunction of CD18 results in the inability of leukocytes to adhere to the vascular endothelium, preventing their extravasation into tissues where they are needed to combat infections.
Clinical Features[edit]
Patients with LAD-1 typically present with recurrent bacterial infections, particularly of the skin and mucous membranes. Common infections include gingivitis, periodontitis, and skin abscesses. A hallmark feature of LAD-1 is the lack of pus formation at sites of infection, due to the impaired recruitment of neutrophils. Other clinical manifestations may include delayed separation of the umbilical cord, poor wound healing, and severe periodontal disease. The severity of the condition can vary, with some patients experiencing life-threatening infections early in life.
Diagnosis[edit]
The diagnosis of LAD-1 is based on clinical presentation, laboratory findings, and genetic testing. Laboratory tests typically reveal leukocytosis (an increased number of white blood cells) and the absence of CD18 expression on leukocytes, as determined by flow cytometry. Genetic testing can confirm mutations in the CD18 gene.
Treatment[edit]
Management of LAD-1 involves aggressive treatment of infections with appropriate antibiotics and supportive care. In severe cases, hematopoietic stem cell transplantation (HSCT) may be considered as a curative treatment option. Gene therapy is an emerging area of research for the treatment of LAD-1.
Prognosis[edit]
The prognosis for individuals with LAD-1 depends on the severity of the condition and the availability of treatment. Early diagnosis and appropriate management of infections are crucial for improving outcomes. Patients with milder forms of the disease may have a better prognosis, while those with severe forms may experience life-threatening complications.
