Types of PI

Variants in CARD11 are associated with a spectrum of primary immunodeficiencies. Complete absence of CARD11, which is a rare autosomal recessive condition, causes hypogammaglobulinemia and T cell dysfunction in spite of normal T cell numbers.

Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia sometimes also referred to as immunodeficiency with short-limbed dwarfism. It is caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene.

Individuals with CD3 gamma deficiency have clinical phenotypes ranging from immune deficiency to immune dysregulation with autoimmunity.

CD70 deficiency is a rare form of combined immunodeficiency with hypogammaglobulinemia and low CD8+ T cells. Individuals are particularly susceptible to chronic Epstein-Barr virus (EBV) and at high risk of EBV-associated lymphoma.

CD8 deficiency is an extremely rare autosomal recessive disorder due to homozygous mutation of CD8 gene.

CHARGE syndrome is a genetic syndrome with a known pattern of features: coloboma of the eye, heart defects, atresia of the choanae, restriction of growth and development, and ear abnormalities and deafness.

Chronic granulomatous disease (CGD) is an inherited disease in which the body’s cells that eat invaders (also called phagocytes) do not make hydrogen peroxide and other chemicals. These chemicals are needed to kill certain bacteria and fungi.

Chronic mucocutaneous candidiasis (CMC) is characterized by persistent Candida (fungus) infections of the mucous membranes, scalp, skin, and nails.

People with chronic neutropenia have low levels of white blood cells called neutrophils, and the condition is both a rare blood disorder and a rare type of primary immunodeficiency (PI).

Combined immune deficiencies (CID) are a group of primary immunodeficiencies in which both T cells and B cells of the adaptive immune system are either low or function poorly.

Combined immunodeficiency with intestinal atresias (CID-IA) is a rare, severe disorder in which parts of the small intestine fail to develop properly.

Comel-Netherton syndrome is a type of hyper IgE syndrome that affects the skin, hair, and immune system.

Common variable immune deficiency (CVID), previously known as adult-onset hypogammaglobulinemia, is one of the most frequently diagnosed primary immunodeficiencies. It is characterized by low levels of serum antibodies, which cause an increased susceptibility to infection.

Individuals with a complement deficiency can have clinical problems that are a result of the role that the specific complement protein plays in the normal function of the human body.

Congenital athymia is an ultra-rare condition in which children are born without a thymus, causing severe immunodeficiency and immune dysregulation.

Constitutional mismatch repair deficiency (CMMRD) describes several disorders that lead to childhood-onset cancer. CMMRD caused by variants in the PMS2 gene also leads to immune deficiency.

Coronin 1A deficiency is associated with a very low number of T cells with impaired function, similar to severe combined immunodeficiency (SCID).

Variants in the genes encoding cytotoxic T lymphocytic antigen-4 (CTLA4) and lipopolysaccharide responsive beige-like anchor (LRBA) can cause immune dysregulation. This means the components of the immune system regulating inflammation, autoimmunity, and cancer lose their proper function, leading to an array of autoimmune disorders and infections.