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C152105Level 6

Inborn Error of Immunity

**Semantic type:** Disease or Syndrome

**Definition:** A group of immunodeficiencies caused by damaging germline mutations in single genes. Patients are at an increased risk to develop infections, autoimmunity, bone marrow failure, and malignancies, usually lymphomas.

**Synonyms:** - IEI - PID - Primary Immune Deficiency Disorder - Primary Immunodeficiency - Primary Immunodeficiency Disorder - Primary Immunodeficiency Syndrome - Primary Immunodeficiency Syndrome

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