- selective IgM deficiency disease [DOID:0050222]
A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies.
- DNA ligase IV deficiency [DOID:0060021]
A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay.
- Waldenstroem's macroglobulinemia [DOID:0060901]
A lymphoplasmacytic lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein.
- CD40 ligand deficiency [DOID:0060022]
A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE.
- androgenic alopecia [DOID:0050801]
An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males.