Primary Immunodeficiency Program

ALPS is an inherited disorder that can affect both children and adults. It causes an unusually high number of blood cells to collect in the lymph nodes, liver, and spleen, which causes swelling.

Children or adults with CVID have difficulty fighting disease, which can lead to recurring illnesses. The disease may become evident anytime between infancy and adulthood.

Symptoms vary, and the most common are:

• Recurrent infections of the ears, sinuses, and lungs
• Inflammation in the joints of the knees, ankles, elbows, or wrists
• Stomach and bowel disorders
• Increased risk of developing some cancers

A disease that affects the chromosomes, DiGeorge may cause physical abnormalities in your child's heart, kidneys, or brain. It can also cause multiple health problems such as feeding issues. Children with DiGeorge may have the following facial features:

• Small ears with squared upper ear
• Hooded eyelids
• Cleft lip and/or palate
• Asymmetric crying face
• Small mouth, chin, and side areas of the nose tip

This is a condition where the body has a hard time healing itself. DNA repair slows down naturally as we age, and defects can cause this process to increase in certain organs. It's often seen in children who suffer from diseases that cause accelerated aging.

Eosinophilic esophagitis is an allergic inflammatory disease of the tube that connects the mouth to the stomach. It is also called allergic esophagitis, and symptoms include difficulty swallowing, heartburn, and food becoming lodged in the throat.

HLH is an immunodeficiency that primarily affects your child's blood. Common symptoms include fever, jaundice and rash, as well as enlargement of the lymph nodes and liver.

This category includes a number of different syndromes that cause your child to experience occasional fevers and swelling, often causing joint pain and abdominal pain. They're usually genetic in nature, resulting from an inherited gene mutation. Treatment depends on the specific syndrome.

Children born with SCID have little or no immune system and are, therefore, susceptible to constant recurrent infections. Symptoms usually appear within the first year of life.

With SCID, your child will experience numerous serious and/or life-threatening infections that are not easily treated and don't respond to medications, including:

• Pneumonia - infection of the lungs
• Meningitis - infection of the brain
• Sepsis - infection in the bloodstream

Other, less serious infections may include:

• Chronic skin infections/abscesses
• Yeast infections in the mouth and diaper area
• Diarrhea
• Infection of the liver

Antibodies help us fight diseases, and our bodies make special antibodies for each disease. If you or your child's body can't make antibodies for a certain illness or illnesses, he or she may need treatment. People who have this disorder often have trouble fighting off chest and sinus infections in particular.

Most children who have this disorder are boys, as it is linked to a recessive gene on the x-chromosome. Common symptoms include eczema, bloody stool, and low-platelet count (which can cause excessive bruising or bleeding).

This disease only affects males and can lead to infections in multiple areas, such as the skin, lungs, eyes, bone, spine, bloodstream and gastrointestinal tract. Other symptoms may include:

• Growth failure/failure to thrive or grow
• Absence of tonsils and adenoids
• Joint disease primarily in the knees, similar to juvenile rheumatoid arthritis
• Autoimmune hemolytic anemia (red blood cell breakdown)
• Glomerulonephritis (kidney inflammation)
• Neutropenia (decreased neutrophils in the blood)
• Dermatomyositis (skin and muscle inflammation)