Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. It can be inherited or acquired, with the genetic form often presenting in infancy or early childhood. Among the genetic causes, mutations in the UNC13D gene lead to a form of the disease known as familial hemophagocytic lymphohistiocytosis type 3 (FHL3). Understanding […]
Symptoms of STX11 Gene Hemophagocytic Lymphohistiocytosis Type 4 Hemophagocytic lymphohistiocytosis (HLH) is a rare but severe syndrome of excessive immune activation. Type 4, associated with mutations in the STX11 gene, presents unique challenges and symptoms. Understanding these can be crucial for early diagnosis and treatment. Hemophagocytic lymphohistiocytosis type 4, caused by mutations in the STX11 […]
Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially life-threatening condition that affects the immune system. Among the genetic forms of this disease, type 5 is caused by mutations in the STXBP2 gene. This particular form of HLH can lead to severe inflammation and damage to organs throughout the body, including the liver, spleen, and bone […]
Hennekam Lymphangiectasia-Lymphedema Syndrome Type 1 (HLLS1) is a rare genetic disorder characterized by a combination of lymphedema, lymphangiectasia, and developmental anomalies. It is caused by mutations in the CCBE1 gene, which plays a crucial role in the development and maintenance of the lymphatic system. This condition can lead to significant medical complications and impact the […]
Understanding SP110 Gene Hepatic Venoocclusive Disease with Immunodeficiency Hepatic veno-occlusive disease with immunodeficiency (VODI) is a rare genetic disorder that poses significant health challenges to those affected. This condition is characterized by severe liver disease and a compromised immune system, making it crucial for early diagnosis and intervention. The genetic underpinnings of this disease have […]
Symptoms of TLR3 Gene Herpes Simplex Encephalitis Type 2 Susceptibility Herpes Simplex Encephalitis (HSE) is a serious condition caused by the herpes simplex virus (HSV). It leads to inflammation of the brain, causing a range of neurological problems. While anyone can be affected by HSE, certain individuals are more susceptible due to genetic factors. One […]
SLC29A3 gene histiocytosis-lymphadenopathy plus syndrome is a rare genetic disorder that can affect multiple systems in the body, leading to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and treatment. At DNA Labs UAE, we offer a comprehensive genetic test for this condition, ensuring that individuals and families have access […]
Sure, here’s the article in the requested format: Symptoms of ANTXR2 Gene Hyaline Fibromatosis Syndrome Genetic Test Hyaline Fibromatosis Syndrome (HFS) is a rare genetic disorder that can have a significant impact on an individual’s health and quality of life. Caused by mutations in the ANTXR2 gene, this condition manifests through a variety of symptoms […]
Hyper-IgE Syndrome (HIES), also known as Job’s Syndrome, is a rare, primary immunodeficiency disorder characterized by high levels of serum IgE, eczema, and recurrent skin and lung infections. A significant cause of this syndrome is mutations in the STAT3 gene, leading to what is commonly referred to as STAT3-Hyper-IgE Recurrent Infection Syndrome. Recognizing the symptoms […]
DOCK8 Gene Hyper-IgE Recurrent Infection Syndrome, also known as Autosomal Recessive Hyper-IgE Syndrome (AR-HIES), is a rare genetic disorder that significantly impacts the immune system. This condition is characterized by high levels of immunoglobulin E (IgE), recurrent skin and lung infections, and a variety of other systemic symptoms. Understanding the symptoms of this syndrome is […]
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