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Cryptosporidiosis-chronic cholangitis-liver disease syndrome(IMD56)

MedGen UID:
767601
Concept ID:
C3554687
Disease or Syndrome
Synonyms: IL21R immunodeficiency; Immunodeficiency type 56
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IL21R (16p12.1)
 
Monarch Initiative: MONDO:0014082
OMIM®: 615207
Orphanet: ORPHA357329

Definition

Immunodeficiency-56 is an autosomal recessive primary immunodeficiency characterized by B- and T-cell defects and variable dysfunction of NK cells. Patients tend to have normal numbers of lymphocytes, but show defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens (summary by Kotlarz et al., 2013). [from OMIM]

Clinical features

From HPO
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Liver failure
MedGen UID:
88444
Concept ID:
C0085605
Disease or Syndrome
A disorder characterized by the inability of the liver to metabolize chemicals in the body. Causes include cirrhosis and drug-induced hepatotoxicity. Signs and symptoms include jaundice and encephalopathy. Laboratory test results reveal abnormal plasma levels of ammonia, bilirubin, lactic dehydrogenase, and alkaline phosphatase.
Chronic diarrhea
MedGen UID:
96036
Concept ID:
C0401151
Finding
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.
Recurrent infection of the gastrointestinal tract
MedGen UID:
343135
Concept ID:
C1854495
Disease or Syndrome
Recurrent infection of the gastrointestinal tract.
Chronic hepatitis due to cryptosporidium infection
MedGen UID:
815150
Concept ID:
C3808820
Finding
Chronic hepatitis associated with infection by cryptosporidia, as demonstrated (for example) by immunohistochemistry of liver tissue.
Bronchiectasis
MedGen UID:
14234
Concept ID:
C0006267
Disease or Syndrome
Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.
Recurrent sinusitis
MedGen UID:
107919
Concept ID:
C0581354
Disease or Syndrome
A recurrent form of sinusitis.
Recurrent pneumonia
MedGen UID:
195802
Concept ID:
C0694550
Disease or Syndrome
An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.
Recurrent respiratory infections
MedGen UID:
812812
Concept ID:
C3806482
Finding
An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.
Cholangitis
MedGen UID:
40258
Concept ID:
C0008311
Disease or Syndrome
Inflammation of the biliary ductal system, affecting the intrahepatic or extrahepatic portions, or both.
Immunodeficiency
MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.
Recurrent infections
MedGen UID:
65998
Concept ID:
C0239998
Finding
Increased susceptibility to infections.
Recurrent otitis media
MedGen UID:
155436
Concept ID:
C0747085
Disease or Syndrome
Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media.
Panhypogammaglobulinemia
MedGen UID:
233072
Concept ID:
C1328587
Finding
A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes.
Pneumocystosis
MedGen UID:
777048
Concept ID:
C1535939
Disease or Syndrome
An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCryptosporidiosis-chronic cholangitis-liver disease syndrome
Follow this link to review classifications for Cryptosporidiosis-chronic cholangitis-liver disease syndrome in Orphanet.

Professional guidelines

PubMed

Marbet UA, Stalder GA, Faust H, Harder F, Gyr K
Gut 1987 Feb;28(2):142-5. doi: 10.1136/gut.28.2.142. PMID: 3557186Free PMC Article

Recent clinical studies

Etiology

Marbet UA, Stalder GA, Faust H, Harder F, Gyr K
Gut 1987 Feb;28(2):142-5. doi: 10.1136/gut.28.2.142. PMID: 3557186Free PMC Article

Diagnosis

Suzuki K, Higuchi H, Shimizu S, Nakano M, Serizawa H, Morinaga S
World J Gastroenterol 2015 Jul 14;21(26):8215-20. doi: 10.3748/wjg.v21.i26.8215. PMID: 26185397Free PMC Article
Sanada Y, Yamada N, Taguchi M, Morishima K, Kasahara N, Kaneda Y, Miki A, Ishiguro Y, Kurogochi A, Endo K, Koizumi M, Sasanuma H, Fujiwara T, Sakuma Y, Shimizu A, Hyodo M, Sata N, Yasuda Y
Int Surg 2014 Jul-Aug;99(4):426-31. doi: 10.9738/INTSURG-D-13-00243.1. PMID: 25058778Free PMC Article
Katabathina VS, Dasyam AK, Dasyam N, Hosseinzadeh K
Radiographics 2014 May-Jun;34(3):565-86. doi: 10.1148/rg.343125211. PMID: 24819781

Clinical prediction guides

Marbet UA, Stalder GA, Faust H, Harder F, Gyr K
Gut 1987 Feb;28(2):142-5. doi: 10.1136/gut.28.2.142. PMID: 3557186Free PMC Article

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