Many times, these disorders are associated with mutations in a specific gene-MEFV with familial Mediterranean fever (FMF), NLRP3 with Muckle-Wells syndrome (MWS), TNFRSF1A with tumor necrosis factor (TNF)-associated periodic syndrome (TRAPS), MVK with
hyperimmunoglobulinemia D with periodic fever syndrome (HIDS), and LPIN2 with Majeed syndrome (1).
Belmaker, "Extreme
hyperimmunoglobulinemia E and undue susceptibility to infection," Pediatrics, vol.
Hoffmann, "Mevalonate kinase deficiencies: from mevalonic aciduria to
hyperimmunoglobulinemia D syndrome," Orphanet Journal of Rare Diseases, vol.
The pathogenesis involves a dysfunctional innate and adaptive immune response, including an unbalanced increase in T helper type 2 (Th2) cells and
hyperimmunoglobulinemia E.
The second familial syndrome,
hyperimmunoglobulinemia D with periodic fever syndrome, or hyper IgD (HIDS), has an early age of onset, typically before 12 months and with more than half before 6 months.
Hyper-immunoglobulin A in the
hyperimmunoglobulinemia D syndrome.
Delayed eruption of permanent teeth in
hyperimmunoglobulinemia E recurrent infection syndrome.
Similarly, the recently described phenotype of mice with phenylalanine mutation of Y757 in both alleles of the gp130 gene (splenomegaly, lymphadenopathy, enhanced acute phase responses, and
hyperimmunoglobulinemia) could reflect the effect of loss of function of SHP2, SOCS3, or both [161].
Barron et al., "Long-term follow-up, clinical features, and quality of life in a series of 103 patients with
hyperimmunoglobulinemia D syndrome," Medicine, vol.
Also known as
hyperimmunoglobulinemia D syndrome, MKD (OMIM 260920) is an autosomal recessive disease caused by mutations in the MVK gene [102](Table 1), encoding for the enzyme mevalonate kinase, involved in the ATP-dependent phosphorylation of mevalonic acid into 5-phosphomevalonate.
AA amyloidosis also complicates 4 hereditary diseases with varying frequencies: FMF, the tumor necrosis factor receptor-associated periodic syndrome, Muckle-Wells syndrome, and
hyperimmunoglobulinemia IgD with periodic fever.