CD40Lbase: X-linked Hyper-IgM syndrome (XHIM)

Version 2.5 last updated 21 August, 2008 contains 239 public entries


Curated:	Mauno Vihinen and Luigi D. Notarangelo
Maintained by:	Jouni Väliaho
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Short description of the CD40Lbase :

X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) is caused by the absence of CD40 ligand (TNFSF5 or CD154), which is normally expressed on activated CD4+ T cells. Absence of TNFS5 interrupts B cells differentiation by somatic hypermutation and heavy-chain switch from IgM to other immunoglobulin isotypes. Somatic hypermutation and immunoglobulin class switching are required to make high-affinity functional antibodies.

Other IMT services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome - Database for genes and proteins of the Human Immune System
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: CD40Lbase