Multisystem genetic disorder characterized by the accumulation of cystine (an amino acid) in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain.

Cystinosis is broken down into three different forms: nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis.

The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another.

Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment are critical in slowing the development and progression of symptoms associated with cystinosis.

The kidneys and eyes are the two organs most often affected. Individuals with nephropathic or intermediate cystinosis ultimately require a kidney transplant.

1 in 100,000 – 200,000

Skeletal muscle weakness characterizes the disease (at all ages), causing mobility problems and affecting the respiratory system.

First symptoms can occur at any age from birth to late adulthood. Earlier onset compared to later onset is usually associated with faster progression and greater disease severity.

The most severely affected infants usually present within the first 3 months after birth.

1 in 40,000

Characterized by an abnormal accumulation of certain complex accumulations carbohydrates in the arteries, skeleton, eyes, joints, ears, skin, and/or teeth.

These may also be found in the respiratory system, liver, spleen, central nervous system, blood, and bone marrow.

There are several different types and subtypes of mucopolysaccharidosis.

1 in 25,000

A rare primary immunodeficiency disorder, with symptoms often becoming apparent at birth or early during infancy or childhood.

Characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia.

First symptoms include the development of a dry, red, flaky skin rash (eczema).

1 in 1,000,000

A group of rare congenital syndromes with little or no immune responses.

Characterized by frequent recurring infections with bacteria, fungi, and viruses.

Infections that are minor in most people can be life‑threatening in people with SCID.

1 in 100,000

See DOCK8 deficiency

A group of disorders characterized by low levels of immunoglobulins (Ig).

Because of low level of Ig, the immune system cannot make antibodies that fight bacteria, viruses or other toxins in the body, leading to frequent infections, particularly in the sinuses, lungs, and digestive tract.

Symptoms most commonly begin in early adulthood but can occur at any age.

1 in 25,000 – 50,000

Neurodegenerative disorder, with symptoms typically presenting between 1-4 years old.

An unsteady gait (ataxia) is often the first sign of AT.

Distinguishing symptoms include an impaired ability to coordinate eye movements and episodes of involuntary movements.

Progression is associated with cerebellar degeneration, and many school-age children with AT are dependent on wheelchair assistance.

Telangiectasias, which are dilated blood vessels, may be present in the eye, skin or mucous membranes of children with AT. Ocular telangiectasias are the most common type of telangiectasias and usually present between 4 and 6 years of age.

Impaired functioning of the immune system is present in many people with AT and many affected individuals have an increased risk of developing infections in the sinuses and lungs. People with AT are also at increased risk for certain cancers, particularly lymphomas and leukemias during the first two decades of life and cancers in solid organs during early adulthood.

1 in 40,000 – 100,000

A rare and fatal primary combined immunodeficiency.

Affected children are susceptible to multiple infections by viruses, Pneumocystis jirovecii, bacteria and fungi.

1 in 200,000 – 1,000,000

Condition in which the body makes too many activated immune cells.

Symptoms usually develop within the first months or years of life and may include fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities.

May be inherited or it can have non-genetic causes in which case it is called acquired HLH.

There are five subtypes of inherited HLH which are designated as familial HLH, types 1-5.

1 in 50,000

Characterized by a defective immune system that is powerfully responsive to infection with the Epstein-Barr virus (EBV), the pathogen commonly associated with infectious mononucleosis.

Exposure to EBV may result in severe, life-threatening fulminant hepatitis; abnormally low levels of antibodies in the blood and body secretions (hypogammaglobulinemia), resulting in increased susceptibility to various infections; malignancies of certain types of lymphoid tissue and/or other abnormalities.

Onset of symptoms typically occur from ages 6 months to 10 years and may vary considerably from case to case.

1-2 in 1,000,000 males

Immune deficiency disorder characterized by an inability to resist infections caused by certain types of bacterial and fungal species and a tendency to develop chronic inflammation.

Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver and bones may occur. Patients can also develop swollen areas of inflamed tissues known as granulomas that can be widely distributed, as well as other inflammatory conditions, including those involving the gastrointestinal tract.

Symptoms usually begin in infancy or childhood. Individuals with mild forms of the disorder may not develop symptoms until the teens or adulthood.

4-5 in 1,000,000

A cell-mediated immunodeficiency, with affected children usually presenting symptoms in the first year of life that include recurrent bacterial, viral, and opportunistic infections, diarrhea, pneumonia, widespread skin rashes and failure to thrive.

Severe lower-respiratory infections and oral candidiasis are common.

Affected children usually do not survive past their second year without hematopoietic stem cell transplantation.

1 in 50,000

One of a group of rare congenital syndromes with little or no immune responses, resulting in frequent recurring infections with bacteria, fungi, and viruses.

Symptoms include rashes, diarrhea, recurrent infections, difficulty gaining weight, weakness and/or growth delay.

Infections that are minor in most people can be life‑threatening in people with SCID.

1 in 100,000