Leukocyte adhesion deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Leukocyte adhesion deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = [[Autosomal recessive]] pattern is the mode of inheritance for leukocyte adhesion deficiency. | |||
| field = [[Immunology]] | |||
| symptoms = Recurrent [[bacterial infections]], delayed [[wound healing]], absence of [[pus]] formation | |||
| complications = [[Sepsis]], [[periodontitis]], [[gingivitis]] | |||
| onset = [[Infancy]] | |||
| duration = Lifelong | |||
| causes = Genetic mutations affecting [[leukocyte]] adhesion | |||
| risks = [[Consanguinity]] | |||
| diagnosis = [[Flow cytometry]], [[genetic testing]] | |||
| differential = [[Chronic granulomatous disease]], [[Hyper-IgE syndrome]] | |||
| prevention = Genetic counseling | |||
| treatment = [[Bone marrow transplant]], [[antibiotics]] | |||
| prognosis = Variable, depends on treatment | |||
| frequency = Rare | |||
}} | |||
'''Leukocyte adhesion deficiency''' ('''LAD''') is a rare [[autosomal recessive]] disorder characterized by an inability of [[leukocytes]] (white blood cells) to migrate towards sites of infection or inflammation. This results in recurrent bacterial and fungal infections, delayed wound healing, and impaired pus formation. | '''Leukocyte adhesion deficiency''' ('''LAD''') is a rare [[autosomal recessive]] disorder characterized by an inability of [[leukocytes]] (white blood cells) to migrate towards sites of infection or inflammation. This results in recurrent bacterial and fungal infections, delayed wound healing, and impaired pus formation. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
Patients with LAD typically present with recurrent, severe bacterial and fungal infections that lack the usual pus formation seen in normal immune responses. These infections often affect the skin, mucous membranes, and respiratory tract. Other symptoms may include delayed separation of the [[umbilical cord]] after birth, poor wound healing, and periodontal disease. | Patients with LAD typically present with recurrent, severe bacterial and fungal infections that lack the usual pus formation seen in normal immune responses. These infections often affect the skin, mucous membranes, and respiratory tract. Other symptoms may include delayed separation of the [[umbilical cord]] after birth, poor wound healing, and periodontal disease. | ||
== Causes == | == Causes == | ||
LAD is caused by mutations in the [[ITGB2]] gene, which encodes for the [[CD18]] protein. This protein is a component of [[integrin]]s, which are molecules that aid in the adhesion and migration of leukocytes. Without functional CD18, leukocytes are unable to adhere to the walls of blood vessels and migrate to sites of infection or inflammation. | LAD is caused by mutations in the [[ITGB2]] gene, which encodes for the [[CD18]] protein. This protein is a component of [[integrin]]s, which are molecules that aid in the adhesion and migration of leukocytes. Without functional CD18, leukocytes are unable to adhere to the walls of blood vessels and migrate to sites of infection or inflammation. | ||
== Diagnosis == | == Diagnosis == | ||
Diagnosis of LAD is based on clinical symptoms and laboratory tests. Laboratory findings may include elevated levels of leukocytes in the blood, due to their inability to migrate out of the bloodstream. Genetic testing can confirm the diagnosis by identifying mutations in the ITGB2 gene. | Diagnosis of LAD is based on clinical symptoms and laboratory tests. Laboratory findings may include elevated levels of leukocytes in the blood, due to their inability to migrate out of the bloodstream. Genetic testing can confirm the diagnosis by identifying mutations in the ITGB2 gene. | ||
== Treatment == | == Treatment == | ||
There is currently no cure for LAD. Treatment is focused on managing symptoms and preventing infections. This may include the use of antibiotics, antifungal medications, and granulocyte transfusions. In severe cases, a [[hematopoietic stem cell transplantation]] may be considered. | There is currently no cure for LAD. Treatment is focused on managing symptoms and preventing infections. This may include the use of antibiotics, antifungal medications, and granulocyte transfusions. In severe cases, a [[hematopoietic stem cell transplantation]] may be considered. | ||
== See also == | == See also == | ||
* [[Leukocyte]] | * [[Leukocyte]] | ||
| Line 19: | Line 33: | ||
* [[CD18]] | * [[CD18]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immunodeficiency]] | [[Category:Immunodeficiency]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 03:09, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
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| Leukocyte adhesion deficiency | |
|---|---|
| |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent bacterial infections, delayed wound healing, absence of pus formation |
| Complications | Sepsis, periodontitis, gingivitis |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutations affecting leukocyte adhesion |
| 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 |
Leukocyte adhesion deficiency (LAD) is a rare autosomal recessive disorder characterized by an inability of leukocytes (white blood cells) to migrate towards sites of infection or inflammation. This results in recurrent bacterial and fungal infections, delayed wound healing, and impaired pus formation.
Symptoms and Signs[edit]
Patients with LAD typically present with recurrent, severe bacterial and fungal infections that lack the usual pus formation seen in normal immune responses. These infections often affect the skin, mucous membranes, and respiratory tract. Other symptoms may include delayed separation of the umbilical cord after birth, poor wound healing, and periodontal disease.
Causes[edit]
LAD is caused by mutations in the ITGB2 gene, which encodes for the CD18 protein. This protein is a component of integrins, which are molecules that aid in the adhesion and migration of leukocytes. Without functional CD18, leukocytes are unable to adhere to the walls of blood vessels and migrate to sites of infection or inflammation.
Diagnosis[edit]
Diagnosis of LAD is based on clinical symptoms and laboratory tests. Laboratory findings may include elevated levels of leukocytes in the blood, due to their inability to migrate out of the bloodstream. Genetic testing can confirm the diagnosis by identifying mutations in the ITGB2 gene.
Treatment[edit]
There is currently no cure for LAD. Treatment is focused on managing symptoms and preventing infections. This may include the use of antibiotics, antifungal medications, and granulocyte transfusions. In severe cases, a hematopoietic stem cell transplantation may be considered.
