Figure 1. Types of Primary Immunodeficiencies and the identified genes that are affected (from left to right). Genes affected and the types of primary immunodeficiencies that can arise (from right to left).
Which diseases will the program study?
Auto-immune Lymphoproliferation Syndrome (ALPS): Inherited disorder, of early onset (on average <5 years old) in which the body cannot properly regulate the number of lymphocytes (immune cells) leading to an abnormally large number of these cells in the blood and in the secondary lymphoid organs (lymphoproliferation). This accumulation causes the enlargement of the lymph nodes (lymphadenopathy), the liver (hepatomegaly), and the spleen (splenomegaly). Autoimmune manifestations are found in more than two-thirds of ALPS patients, most commonly in the form of autoimmune cytopenias (hemolytic anemia, thrombocytopenia and neutropenia).
Auto-immune Cytopenia: Related group of disorders in which differentiated hematopoietic cells are destroyed by the immune system. Single lineage disease is characterized by the production of autoantibodies against red cells (autoimmune hemolytic anemia [AIHA]), platelets (autoimmune thrombocytopenia [ITP]) and neutrophils (autoimmune neutropenia [AIN]) whereas multilineage disease may include various combinations of these conditions.
Enteropathy-Inflammatory Bowel Disease: Disorders that involve chronic inflammation of the digestive tract. They include ulcerative colitis which causes inflammation and ulcers along the lining of the colon and rectum, and Crohn’s disease, that is characterized by inflammation of both the lining and the deeper layers of the digestive tract. They share symptoms like diarrhea, rectal bleeding, abdominal pain, fatigue and weight loss. Causes remain unknown.
Systemic lupus erythematosus (SLE): Autoimmune disease in which the immune system of the body mistakenly attacks healthy tissue causing generalized inflammation and tissue damage. It is the most common type of Lupus. It affects skin, joints, kidneys, brain, and other organs. There are no known causes for SLE, but environmental, genetic, and hormonal factors seem to be linked.
Juvenile idiopathic arthritis (JIA): Groups different types of JIA that are autoimmune and inflammatory diseases and is the most common type of arthritis in kids and teens. It typically causes joint pain and inflammation in the hands, knees, ankles, elbows and/or wrists. Its causes are unknown.
Familial hemophagocytic lymphohistiocytosis (FHL): It is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes) which cause fever, enlarged liver or spleen, cytopenia (decreased number of blood cells), and neurological abnormalities. It can have genetic or non-genetic causes, which distinguish inherited from acquired HLH.