Details of Disease

General Information of Disease (ID: DISVZ6G7)

• Disease Name: Immunodeficiency due to MASP-2 deficiency
• Synonyms: MASP2 deficiency; lectin complement activation pathway, defect in, 2; immunodeficiency due to MASP-2 deficiency
• Definition: Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic.
• Disease Hierarchy:
  DIS0BGZK: Disorder of lectin complement activation pathway
  DISVZ6G7: Immunodeficiency due to MASP-2 deficiency
• Disease Identifiers:
  MONDO ID: MONDO_0013423
  MESH ID: C565360
  UMLS CUI: C3151085
  OMIM ID: 613791
  MedGen ID: 462435
  Orphanet ID: 331187

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MASP2	TTR01E9	Strong	Autosomal recessive	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FCN3	OTPRENLS	Strong	Biomarker	[2]
MASP2	OTBFTUZ1	Strong	Autosomal recessive	[1]
FCN1	OTK6ZHXH	Definitive	Genetic Variation	[3]

References

• [1] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [2] Lectin-complement pathway molecules are decreased in patients with cirrhosis and constitute the risk of bacterial infections.Liver Int. 2017 Jul;37(7):1023-1031. doi: 10.1111/liv.13368. Epub 2017 Feb 28.
• [3] Components of the lectin pathway of complement activation in paediatric patients of intensive care units.Immunobiology. 2016 May;221(5):657-69. doi: 10.1016/j.imbio.2016.01.003. Epub 2016 Jan 15.