Types of PI

Cartilage Hair Hypoplasia is an autosomal recessive immunodeficiency. The main symptoms of the condition of short stature (dwarfism), skeletal abnormalities, sparse hair, and a deficient immune system. The deficiency of the immune system can vary with individuals, from mild to severe; at times, the intensity can be compared to Severe Combined Immunodeficiency (SCID). Those with CHC can have gastrointestinal problems and a higher risk at developing cancer. CHC is most common in the Old Order Amish population and people of Finnish descent; for the former, CHC affects 1 in 1,300 newborns and 1 in 20,000 for the latter. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder. The disorder affects many areas of the body, especially the immune system. Infants and children with the disorder have persistent, severe, and sometimes life-threatening infections. Other major symptoms include oculocutaneous albinism (light skin, hair, and eyes), photophobia (sensitivity to light), and abnormal bleeding due to issues with blood clotting. Later in life, individuals with CHS can have issues with their nervous system, resulting in weakness, clumsiness, and seizures. There is no specific treatment for CHS, although bone marrow transplants have been observed as successful for certain individuals. The condition is very rare. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder that usually occurs in childhood characterized by reduced pigment in the skin and eyes (oculocutaneous albinism), immune deficiency with an increased susceptibility to infections, and a tendency to bruise and bleed easily. Neurological deficits are also common. CHS is transmitted as an autosomal recessive genetic condition. Credit: NORD.

Chronic Granulomatous Disease (CGD) results in a deficient immune system, making them susceptible to infections. Individuals with CGD get too many immune cells that form “knots” (granulomas). Individuals with CGD experience chronic inflammation, even when no infection is present. The inflammation can cause symptoms like bladder and kidney problems, pain, and diarrhea. CGD is estimated to occur in approximately 1 in 200,000 to 250,000 people worldwide. Credits: Immune Deficiency Foundation, Genetics Home Reference

Chronic Mucocutaneous Candidiasis (CMC) is a condition that results in persistent Candida (fungal infection) of the mucous membranes, scalp, nails, and skin. CMC is hereditary and presents itself soon after birth with frequent cases of oral candida (thrush). CMC occurs because of an individual's selective T-cell deficiency to Candida and related fungi. Some individuals with CMC are at risk of developing a more severe condition, systemic candidiasis, which infects the bloodstream. Systemic candidiasis can be life threatening. CMC requires lifelong antifungal medicines as treatment. The number of those dealing with CMC is currently unknown, however the condition is considered to be rare. Credits: Immune Deficiency Foundation, Genetics Home Reference

Comel-Netherton Syndrome is a condition that affects an individual's skin, hair, and immune system. Newborns with the condition typically have ichthyosis (scaly skin), bamboo-like hair (thin, tubular and fragile), high risk of bacterial infections, and fail to thrive (have difficulty growing and gaining weight). The deficient immune system can result in various problems like food allergies, asthma, and eczema. The syndrome is estimated to occur in 1 out of 200,000 newborns. Credits: Immune Deficiency Foundation, Genetics Home Reference

Complement is the term used to describe a group of serum proteins that are critically important in our defense against infection. Complement deficiencies vary depending on the protein affected (eg. C2 deficiency). The complement system involves more than 30 proteins.

Symptoms of complement deficiencies can be recurrent mild/severe bacterial infections and autoimmune disease. Individuals can suffer from angioedema (swelling under the skin), which does not respond to antihistamines or epinephrine. Symptoms may vary depending on the type of complement deficiency. Individuals with a family history of these symptoms should be carefully observed. It is likely that they have inherited the autosomal co-dominant condition. Credit: Immune Deficiency Foundation

Common Variable Immune Deficiency (CVID) is one of the most frequently diagnosed primary immunodeficiencies. Individuals with CVID have low levels of serum immunoglobulins and antibodies, which makes them susceptible to infection. They are likely to suffer recurrent infections of the ears, sinuses, and lungs. The severity and the frequency of infections fluctuates with each individual case of CVID. CVID can also lead to higher chances of suffering other autoimmune disorders (Eg. Rheumatoid arthritis) and certain kinds of cancer. Signs of CVID can be found in both children and adults. CVID occurs in an estimate of 1 in 25,000 to 1 in 50,000 people worldwide. CVID can be treated with immunoglobulin replacement therapy to contribute more antibodies, while symptoms like chronic infections are treated with antibiotics. Credits: Immune Deficiency Foundation, Genetics Home Reference