Lunch and Learn: APHL Update
August 31, 2023
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Comel-Netherton syndrome
Comel-Netherton syndrome is a type of hyper IgE syndrome that affects the skin, hair, and immune system.
Hoyeraal-Hreidarsson syndrome
This syndrome is a severe form of dyskeratosis congenita with poor growth inside the womb, microcephaly (small head), and pancytopenia (low numbers of all blood cells).
Good's syndrome
Good's syndrome is a rare primary immunodeficiency in adults that results in recurrent infections, low immunoglobulins, and thymic tumors.
Antibody deficiency with normal or elevated immunoglobulins
Some individuals who have recurrent or severe infections have normal or high immunoglobulin levels but do not produce antibodies to either protein or polysaccharide vaccine antigens.
Immunoglobulin heavy chain deficiencies
People with deletions of multiple genes in the immunoglobulin heavy chain region can be asymptomatic or can exhibit susceptibility to infections.
Kappa light chain deficiency
Kappa light chain deficiency is a rare autosomal recessive antibody deficiency.
Constitutional mismatch repair deficiency
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.
Transcobalamin II deficiency
Transcobalamin II deficiency is a rare autosomal recessive type of primary immunodeficiency.
