How Do You Spell RETICULAR DYSGENESIS?

1. Reticular dysgenesis is a rare genetic disorder characterized by the absence or severe reduction in the number of certain cells within the bone marrow called granulocytes and macrophages, which are essential for the proper functioning of the immune system. This condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

   The absence or deficiency of granulocytes and macrophages in individuals with reticular dysgenesis typically leads to a severely compromised immune system, making them highly susceptible to life-threatening infections. In addition to the immune system impairment, affected individuals may also present with sensorineural hearing loss, which can range from mild to profound.

   This disorder is caused by mutations in the gene known as AK2 (adenylate kinase 2), which plays a vital role in the energy production and regulation of cell growth and death. The complete absence or dysfunction of AK2 protein disrupts the development and maturation of granulocytes and macrophages in the bone marrow.

   Due to the severe immune deficiency and hearing impairment associated with reticular dysgenesis, affected individuals require intensive medical management, including regular administration of antibiotics and immune-boosting medications. Stem cell transplantation, particularly bone marrow transplantation, has shown promising results as a treatment option for reticular dysgenesis, restoring a functional immune system.

   Overall, reticular dysgenesis is a rare inherited disorder characterized by the absence or severe reduction of granulocytes and macrophages, resulting in a compromised immune system and often accompanied by sensorineural hearing loss.

Common Misspellings for RETICULAR DYSGENESIS

The term "reticular dysgenesis" has a Latin and Greek etymology.

1. "Reticular" comes from the Latin word "reticulum", meaning "a small net". It is derived from the Latin word "rete", meaning "net or network". In this context, "reticular" refers to the reticular formation, a network of neurons in the brainstem involved in various physiological functions.

2. "Dysgenesis" originates from the Greek word "dusgenesēs", meaning "of faulty origin". It is composed of "dus-", a prefix indicating something abnormal or faulty, and "genesis", meaning "origin or creation".

Combining these terms, "reticular dysgenesis" refers to a condition characterized by the faulty development or origin of the reticular formation in the brainstem.

Plural form of RETICULAR DYSGENESIS is RETICULAR DYSGENESES