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immunodeficiency-centromeric instability-facial anomalies syndrome (ICF)

Other humoral immunodeficiencies, including the following three diseases:
- immunodeficiency, centromeric instability, facial anomalies (ICF)-syndrome,
- kappa light-chain deficiency,
- Ig heavy chain gene deletions.

Category - Primary immunodeficiency

Immunodeficiency, centromeric instability, facial anomaly syndrome (ICF syndrome) is a rare autosomal recessive syndrome associated with mutations in the DNA methyltransferase 3B gene (DNMT3B) in 75% of cases. Patients have variable hypogammaglobulinemia but typically have profound reduction or absence of two or more Ig isotypes. This leads to severe immunodeficiency and death due to infection often before adulthood. Deficiencies of B-cell receptors are caused by mutations in the genes that encode immunoglobulin heavy or light chains or their associated signaling molecules, leading to agammaglobulinemia or hypogammaglobulinemia. Mutations in immunoglobulin heavy-chain genes (such as gamma1, 2, 3, or 4; alpha1 or 2; and epsilon) cause deficiencies of individual classes or subclasses of immunoglobulins, but circulating B cells are present and overall antibody function is usually normal. Mutations in the kappa light-chain gene result in a population of immunoglobulin molecules with only lambda light chains instead of the usual mixture of kappa and lambda types.

(Hagleitner et al., 2008).


KEGG ID: ds:H00087

OTHER NAME(S): IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16
CENTROMERIC INSTABILITY, IMMUNODEFICIENCY SYNDROME; CIID
IMMUNODEFICIENCY SYNDROME, VARIABLE

ABREVIATION(S):
ICF
CIID

TYPE: facial anomalies, immunodeficiency

Related patway(s): DNA replication, heterochromatin formation

DNAtraffic protein(s) related to disease: DNMT3B

OMIM: 242860

Last modification date: July 28, 2011