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Disseminated cryptosporidium infection

MedGen UID:
Concept ID:
Disease or Syndrome
HPO: HP:0031699


Failure to contain infection by a protozoan of the genus Cryptosporidium, leading to spread to many parts of the body. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisseminated cryptosporidium infection

Conditions with this feature

Mannose-binding lectin deficiency
MedGen UID:
Concept ID:
Disease or Syndrome
Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway Defects See also LCAPD2 (613791), caused by variation in the MASP2 gene (605102) on chromosome 1p36, and LCAPD3 (613860), caused by variation in the FCN3 gene (604973) on chromosome 1p36.

Professional guidelines


Berrilli F, D'Alfonso R, Giangaspero A, Marangi M, Brandonisio O, Kaboré Y, Glé C, Cianfanelli C, Lauro R, Di Cave D
Trans R Soc Trop Med Hyg 2012 Mar;106(3):191-5. Epub 2012 Jan 20 doi: 10.1016/j.trstmh.2011.12.005. PMID: 22265078

Recent clinical studies


Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A, Genel F, Notarangelo LD
J Pediatr 2003 Feb;142(2):194-6. doi: 10.1067/mpd.2003.41. PMID: 12584544


Kagawa K, Fujino H, Miki H, Sogabe K, Takahashi M, Maruhashi T, Udaka K, Iwasa M, Fujii S, Nakamura S, Abe M
Transpl Infect Dis 2018 Apr;20(2):e12826. Epub 2018 Jan 25 doi: 10.1111/tid.12826. PMID: 29277954

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