DOCK8 deficiency: Difference between revisions
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[[File:Autosomal recessive - en.svg|thumb|Autosomal recessive - en]] '''DOCK8 deficiency''' is a rare [[primary immunodeficiency]] disorder caused by mutations in the [[DOCK8]] gene. This condition is characterized by a combination of severe [[allergies]], recurrent [[viral infections]], and an increased risk of developing certain types of [[cancer]]. | {{SI}} | ||
{{Infobox medical condition | |||
| name = DOCK8 deficiency | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = DOCK8 deficiency is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = Dedicator of cytokinesis 8 deficiency | |||
| field = [[Immunology]] | |||
| symptoms = [[Recurrent infections]], [[eczema]], [[allergies]], [[viral skin infections]], [[cancer]] | |||
| complications = [[Autoimmunity]], [[malignancy]] | |||
| onset = Childhood | |||
| duration = Lifelong | |||
| causes = Mutations in the [[DOCK8]] gene | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[immunological testing]] | |||
| differential = [[Hyper-IgE syndrome]], [[Wiskott-Aldrich syndrome]], [[CVID]] | |||
| treatment = [[Hematopoietic stem cell transplantation]], [[antibiotics]], [[antiviral therapy]] | |||
| prognosis = Variable, improved with early treatment | |||
| frequency = Rare | |||
}} | |||
[[File:Autosomal recessive - en.svg|left|thumb|Autosomal recessive - en]] '''DOCK8 deficiency''' is a rare [[primary immunodeficiency]] disorder caused by mutations in the [[DOCK8]] gene. This condition is characterized by a combination of severe [[allergies]], recurrent [[viral infections]], and an increased risk of developing certain types of [[cancer]]. | |||
==Genetics== | ==Genetics== | ||
DOCK8 deficiency is inherited in an [[autosomal recessive]] manner. The [[DOCK8]] gene, located on [[chromosome 9]], encodes the DOCK8 protein, which is essential for the proper functioning of the [[immune system]]. Mutations in this gene lead to a loss of function of the DOCK8 protein, resulting in impaired immune responses. | DOCK8 deficiency is inherited in an [[autosomal recessive]] manner. The [[DOCK8]] gene, located on [[chromosome 9]], encodes the DOCK8 protein, which is essential for the proper functioning of the [[immune system]]. Mutations in this gene lead to a loss of function of the DOCK8 protein, resulting in impaired immune responses. | ||
==Clinical Features== | ==Clinical Features== | ||
Individuals with DOCK8 deficiency typically present with: | Individuals with DOCK8 deficiency typically present with: | ||
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* Elevated levels of [[IgE]] antibodies | * Elevated levels of [[IgE]] antibodies | ||
* Increased risk of developing [[lymphoma]] and other [[malignancies]] | * Increased risk of developing [[lymphoma]] and other [[malignancies]] | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of DOCK8 deficiency is based on clinical features, family history, and genetic testing to identify mutations in the DOCK8 gene. Laboratory findings often include elevated IgE levels and eosinophilia. | The diagnosis of DOCK8 deficiency is based on clinical features, family history, and genetic testing to identify mutations in the DOCK8 gene. Laboratory findings often include elevated IgE levels and eosinophilia. | ||
==Treatment== | ==Treatment== | ||
Management of DOCK8 deficiency involves: | Management of DOCK8 deficiency involves: | ||
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* Immunoglobulin replacement therapy | * Immunoglobulin replacement therapy | ||
* Hematopoietic stem cell transplantation (HSCT) as a potential curative treatment | * Hematopoietic stem cell transplantation (HSCT) as a potential curative treatment | ||
==Prognosis== | ==Prognosis== | ||
The prognosis for individuals with DOCK8 deficiency varies. Early diagnosis and appropriate management can improve outcomes, but the condition is associated with significant morbidity and mortality due to infections and malignancies. | The prognosis for individuals with DOCK8 deficiency varies. Early diagnosis and appropriate management can improve outcomes, but the condition is associated with significant morbidity and mortality due to infections and malignancies. | ||
==See also== | |||
== | |||
* [[Primary immunodeficiency]] | * [[Primary immunodeficiency]] | ||
* [[Autosomal recessive]] | * [[Autosomal recessive]] | ||
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* [[Lymphoma]] | * [[Lymphoma]] | ||
* [[Hematopoietic stem cell transplantation]] | * [[Hematopoietic stem cell transplantation]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Immunodeficiency]] | [[Category:Immunodeficiency]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{Genetic-disorder-stub}} | {{Genetic-disorder-stub}} | ||
Latest revision as of 13:43, 5 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
| DOCK8 deficiency | |
|---|---|
| |
| Synonyms | Dedicator of cytokinesis 8 deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Recurrent infections, eczema, allergies, viral skin infections, cancer |
| Complications | Autoimmunity, malignancy |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Mutations in the DOCK8 gene |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, immunological testing |
| Differential diagnosis | Hyper-IgE syndrome, Wiskott-Aldrich syndrome, CVID |
| Prevention | N/A |
| Treatment | Hematopoietic stem cell transplantation, antibiotics, antiviral therapy |
| Medication | N/A |
| Prognosis | Variable, improved with early treatment |
| Frequency | Rare |
| Deaths | N/A |
DOCK8 deficiency is a rare primary immunodeficiency disorder caused by mutations in the DOCK8 gene. This condition is characterized by a combination of severe allergies, recurrent viral infections, and an increased risk of developing certain types of cancer.
Genetics[edit]
DOCK8 deficiency is inherited in an autosomal recessive manner. The DOCK8 gene, located on chromosome 9, encodes the DOCK8 protein, which is essential for the proper functioning of the immune system. Mutations in this gene lead to a loss of function of the DOCK8 protein, resulting in impaired immune responses.
Clinical Features[edit]
Individuals with DOCK8 deficiency typically present with:
- Severe eczema
- Recurrent bacterial infections
- Recurrent viral infections, particularly with human papillomavirus (HPV), herpes simplex virus (HSV), and molluscum contagiosum
- Increased susceptibility to fungal infections
- Elevated levels of IgE antibodies
- Increased risk of developing lymphoma and other malignancies
Diagnosis[edit]
The diagnosis of DOCK8 deficiency is based on clinical features, family history, and genetic testing to identify mutations in the DOCK8 gene. Laboratory findings often include elevated IgE levels and eosinophilia.
Treatment[edit]
Management of DOCK8 deficiency involves:
- Prophylactic antibiotics to prevent infections
- Antiviral and antifungal treatments as needed
- Immunoglobulin replacement therapy
- Hematopoietic stem cell transplantation (HSCT) as a potential curative treatment
Prognosis[edit]
The prognosis for individuals with DOCK8 deficiency varies. Early diagnosis and appropriate management can improve outcomes, but the condition is associated with significant morbidity and mortality due to infections and malignancies.
See also[edit]
- Primary immunodeficiency
- Autosomal recessive
- Immune system
- Eczema
- Human papillomavirus
- Herpes simplex virus
- Molluscum contagiosum
- IgE
- Lymphoma
- Hematopoietic stem cell transplantation
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