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
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
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 .
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 (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.