Cryptosporidiosis - chronic cholangitis - liver disease

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr: 357329
OMIM Id: 615207
ICD-10: D81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined T and B cell immunodeficiency
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
(HPO:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0200124) Chronic hepatitis due to cryptospridium infection 1 / 7739
3
(HPO:0001394) Cirrhosis 102 / 7739
4
(HPO:0001399) Hepatic failure 80 / 7739
5
(HPO:0002028) Chronic diarrhea 51 / 7739
6
(HPO:0001508) Failure to thrive 454 / 7739
7
(HPO:0002090) Pneumonia 59 / 7739
8
(HPO:0002110) Bronchiectasis 73 / 7739
9
(HPO:0002205) Recurrent respiratory infections 254 / 7739
10
(HPO:0002719) Recurrent infections 107 / 7739
11
(HPO:0100806) Sepsis 48 / 7739
12
(HPO:0002721) Immunodeficiency 97 / 7739
13
(MedDRA:10016642) Fibrosis 9 / 7739
14
(OMIM) Increased IgM 3 / 7739
15
(MedDRA:10008604) Cholangitis 6 / 7739
16
(OMIM) Increased IgE Impaired NK cell activity 1 / 7739
17
(OMIM) Impaired B cell class-switching 1 / 7739
18
(OMIM) Normal numbers of lymphocytes and NK cells 1 / 7739
19
(OMIM) Otitis, recurrent 7 / 7739
20
(OMIM) Cytokine defects 1 / 7739
21
(OMIM) Decreased IgG 5 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(OMIM) Defective IL21R-related signaling 1 / 7739
24
(HPO:0030151) Cholangitis 10 / 7739
25
(OMIM) Impaired T-cell proliferation to certain stimuli 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) IL21R immunodeficiency 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 ...
Clinical Description OMIM Kotlarz et al. (2013) reported 2 sibs, born of consanguineous Lebanese parents, with immunodeficiency. The patients had early onset of recurrent infections, as well as chronic cholangitis and biliary and hepatic cirrhosis associated with Cryptosporidium infection. One patient ...
Molecular genetics OMIM In 4 patients from 2 unrelated consanguineous families with ILR21 immunodeficiency, Kotlarz et al. (2013) identified 2 different homozygous loss-of-function mutations in the IL21R gene (605383.0002 and 605383.0003, respectively). Patient cells showed impaired IL21R-mediated signaling and severe abrogation ...