common variable immunodeficiency

An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens.

immunoglobulin heavy-and-light chain

An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils.

X-linked agammaglobulinemia

An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.

maturity-onset diabetes of the young type 1

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20.

maturity-onset diabetes of the young type 4

A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2.

maturity-onset diabetes of the young type 3

A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31.

maturity-onset diabetes of the young type 10

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5.

maturity-onset diabetes of the young type 7

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25.

maturity-onset diabetes of the young type 2

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13.

maturity-onset diabetes of the young type 14

A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14.