LRBA deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = LRBA deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = LRBA deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Lipopolysaccharide-responsive and beige-like anchor protein deficiency | |||
| field = [[Immunology]] | |||
| symptoms = [[Recurrent infections]], [[autoimmune disorders]], [[hypogammaglobulinemia]], [[lymphoproliferation]] | |||
| complications = [[Organ damage]], [[chronic lung disease]], [[enteropathy]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[LRBA gene]] | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[immunological assays]] | |||
| differential = [[Common variable immunodeficiency]], [[X-linked agammaglobulinemia]] | |||
| treatment = [[Immunoglobulin replacement therapy]], [[immunosuppressive therapy]], [[hematopoietic stem cell transplantation]] | |||
| prognosis = Variable, depends on severity and treatment | |||
| frequency = Rare | |||
}} | |||
[[File:LRBA_and_CTLA4.jpg|thumb|left]] | |||
'''LRBA Deficiency''' is a rare genetic disorder characterized by immune dysregulation and autoimmunity. It is caused by mutations in the [[LRBA]] gene, which is involved in the regulation of the immune system. The condition is inherited in an autosomal recessive manner. | '''LRBA Deficiency''' is a rare genetic disorder characterized by immune dysregulation and autoimmunity. It is caused by mutations in the [[LRBA]] gene, which is involved in the regulation of the immune system. The condition is inherited in an autosomal recessive manner. | ||
== Symptoms and Signs == | == Symptoms and Signs == | ||
The symptoms of LRBA deficiency can vary widely among affected individuals. They may include recurrent infections, autoimmune disorders, and lymphoproliferation. Some individuals may also have non-immunological features such as developmental delay, failure to thrive, and organomegaly. | The symptoms of LRBA deficiency can vary widely among affected individuals. They may include recurrent infections, autoimmune disorders, and lymphoproliferation. Some individuals may also have non-immunological features such as developmental delay, failure to thrive, and organomegaly. | ||
== Causes == | == Causes == | ||
LRBA deficiency is caused by mutations in the LRBA gene. This gene provides instructions for making a protein that is involved in the regulation of the immune system. Mutations in the LRBA gene disrupt the normal function of the immune system, leading to immune dysregulation and autoimmunity. | LRBA deficiency is caused by mutations in the LRBA gene. This gene provides instructions for making a protein that is involved in the regulation of the immune system. Mutations in the LRBA gene disrupt the normal function of the immune system, leading to immune dysregulation and autoimmunity. | ||
== Diagnosis == | == Diagnosis == | ||
The diagnosis of LRBA deficiency is based on the clinical symptoms, laboratory findings, and confirmed by genetic testing. The genetic testing involves sequencing of the LRBA gene to identify mutations. | The diagnosis of LRBA deficiency is based on the clinical symptoms, laboratory findings, and confirmed by genetic testing. The genetic testing involves sequencing of the LRBA gene to identify mutations. | ||
== Treatment == | == Treatment == | ||
The treatment of LRBA deficiency is aimed at managing the symptoms and preventing complications. This may include immunosuppressive therapy, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation. | The treatment of LRBA deficiency is aimed at managing the symptoms and preventing complications. This may include immunosuppressive therapy, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation. | ||
== Prognosis == | == Prognosis == | ||
The prognosis of LRBA deficiency varies among affected individuals. It depends on the severity of the symptoms and the response to treatment. | The prognosis of LRBA deficiency varies among affected individuals. It depends on the severity of the symptoms and the response to treatment. | ||
== See Also == | == See Also == | ||
* [[Autoimmune diseases]] | * [[Autoimmune diseases]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Immunodeficiency]] | * [[Immunodeficiency]] | ||
== References == | == References == | ||
<references /> | <references /> | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Autoimmune diseases]] | [[Category:Autoimmune diseases]] | ||
[[Category:Immunodeficiency]] | [[Category:Immunodeficiency]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 04:08, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| LRBA deficiency | |
|---|---|
| |
| Synonyms | Lipopolysaccharide-responsive and beige-like anchor protein deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, autoimmune disorders, hypogammaglobulinemia, lymphoproliferation |
| Complications | Organ damage, chronic lung disease, enteropathy |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the LRBA gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, immunological assays |
| Differential diagnosis | Common variable immunodeficiency, X-linked agammaglobulinemia |
| Prevention | N/A |
| Treatment | Immunoglobulin replacement therapy, immunosuppressive therapy, hematopoietic stem cell transplantation |
| Medication | N/A |
| Prognosis | Variable, depends on severity and treatment |
| Frequency | Rare |
| Deaths | N/A |
LRBA Deficiency is a rare genetic disorder characterized by immune dysregulation and autoimmunity. It is caused by mutations in the LRBA gene, which is involved in the regulation of the immune system. The condition is inherited in an autosomal recessive manner.
Symptoms and Signs[edit]
The symptoms of LRBA deficiency can vary widely among affected individuals. They may include recurrent infections, autoimmune disorders, and lymphoproliferation. Some individuals may also have non-immunological features such as developmental delay, failure to thrive, and organomegaly.
Causes[edit]
LRBA deficiency is caused by mutations in the LRBA gene. This gene provides instructions for making a protein that is involved in the regulation of the immune system. Mutations in the LRBA gene disrupt the normal function of the immune system, leading to immune dysregulation and autoimmunity.
Diagnosis[edit]
The diagnosis of LRBA deficiency is based on the clinical symptoms, laboratory findings, and confirmed by genetic testing. The genetic testing involves sequencing of the LRBA gene to identify mutations.
Treatment[edit]
The treatment of LRBA deficiency is aimed at managing the symptoms and preventing complications. This may include immunosuppressive therapy, immunoglobulin replacement therapy, and in severe cases, hematopoietic stem cell transplantation.
Prognosis[edit]
The prognosis of LRBA deficiency varies among affected individuals. It depends on the severity of the symptoms and the response to treatment.
See Also[edit]
References[edit]
<references />
