A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency...

The human digestive system is an intricate and essential network for nutrient absorption and waste elimination. It encompasses the gastrointestinal (GI) tract and several accessory organs.
Here's a detailed walkthrough of this complex system:

Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...

The GI tract, from beginning to end, is made up of four continuous tissue layers that adjust their structure according to their specific roles. These layers, from innermost to outermost, are known as the mucosa, submucosa, muscularis, and serosa, which are continuous with the mesentery.
The mucosa is sometimes called a mucous membrane due to its mucus-secreting features. This membrane is composed of epithelium, which directly interacts with ingested substances, and the lamina propria, a layer...

The physiology of the gastrointestinal system begins with ingestion as food enters the mouth.

The gastrointestinal (GI) tract, extending from the mouth to the anus, plays a pivotal role in the digestion and absorption of nutrients. This process involves both mechanical and chemical actions facilitated by various enzymes.
Digestion begins in the mouth, where food undergoes mechanical breakdown by chewing and combines with saliva. Salivary amylase, an enzyme in saliva, starts the breakdown of starches into maltose. The food then travels down the esophagus to the stomach.
In the stomach, a...