IL21

Interleukin-21 (IL21) is a secreted cytokine with immunoregulatory activity that belongs to the IL-15/IL-21 family. IL21 promotes the transition between innate and adaptive immunity and is critical for T follicular helper (Tfh) cell generation and maintenance, germinal center formation, and B cell differentiation. It induces immunoglobulin production (IgG1, IgG3) in B cells, regulates proliferation and maturation of natural killer (NK) cells in synergy with IL15, and stimulates interferon-gamma production in T cells and NK cells. IL21 signals through a receptor complex containing IL21R and the common gamma chain (IL2RG), activating the JAK-STAT pathway (primarily JAK1/JAK3 and STAT1/STAT3/STAT5). Expressed primarily by activated CD4+ T cells. Mutations cause common variable immunodeficiency 11 (CVID11).

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.