Update on the hyper immunoglobulin M syndromes

Update on the hyper immunoglobulin M syndromes

The Hyper-immunoglobulin M syndromes (HIGM) are a heterogeneous group of genetic disorders resulting in defects of immunoglobulin class switch recombination (CSR), with or without defects of somatic hypermutation (SHM). They can be classified as defects of signalling through CD40 causing both a humoral immunodeficiency and a susceptibility to opportunistic infections, or intrinsic defects in B ...

An update on the hyper-IgE syndromes

The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally ...

update on hyper ige syndrome (hies)

hyper ige syndrome (hies) is a rare primary immunodeficiency disease. most of hies cases are sporadic. hies type ad is caused by mutation in signal transducer and activator of transcription-3 (stat-3). a number of mosaicism hies has been reported that is associated with intermediate phenotype. autosomal recessive hies (ar-hies) is due to mutation in dock-8 or cytokine sis 8 and tyk2 or tyrosine...

“Nerve Hyper-Sensitivity” Syndromes

Update on the science of myelodysplastic syndromes.

Scientific research is only just beginning to shed light on the pathobiology underlying the various subtypes of myelodysplastic syndromes (MDS), a heterogeneous group of clonal stem cell disorders characterized by cytopenias that can progress to acute myeloid leukemia. Increased understanding of the disease and prognostic implications of specific clinical features has aided in the development o...