Details of Disease

General Information of Disease (ID: DISMIMVO)

• Disease Name: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
• Definition: An immunologic disorder characterized by recurrent mainly sinopulmonary infections associated with increased serum IgE. The phenotype is variable, even within families. Some patients have onset of symptoms in early childhood and develop complications, including bronchiectasis or hemoptysis, whereas others have later onset of less severe infections. Immunologic workup usually shows normal leukocyte levels, although some patients may demonstrate alterations in lymphocyte subsets, including T cells. Affected individuals also have variable skeletal abnormalities, including high-arched palate, hyperextensible joints, scoliosis, and bone fractures. The IL6ST mutations are loss-of-function, although the truncated mutant proteins are expressed and interfere with the wildtype protein in a dominant-negative manner by disrupting IL6 and IL11 signaling.
• Disease Hierarchy:
  DIS6W0DT: Hyper-IgE syndrome
  DISMIMVO: Hyper-IgE recurrent infection syndrome 4A, autosomal dominant
• Disease Identifiers:
  MONDO ID: MONDO_0800131
  UMLS CUI: C5676920
  OMIM ID: 619752
  MedGen ID: 1809613

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL6ST	OT1N9C70	Strong	Autosomal dominant	[1]

References

• [1] Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804.