Conditions / Genetic
immunodeficiency 46
info · Genetic
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and dec
A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29.
Signs and symptoms
- Intermittent thrombocytopenia
- Recurrent sinopulmonary infections
- Chronic diarrhea
- Decreased circulating immunoglobulin concentration
- Anemia
- Decreased total neutrophil count
- Immunodeficiency
- Sepsis
- Failure to thrive
- Conjunctivitis
Also known as: CID due to TFRC deficiency; IMD46; TFRC-related combined immunodeficiency; combined immunodeficiency due to TFRC deficiency