MCID: IMM191
MIFTS: 22

Immunodeficiency 56

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases, Liver diseases

Aliases & Classifications for Immunodeficiency 56

MalaCards integrated aliases for Immunodeficiency 56:

Name: Immunodeficiency 56 57
Il21r Immunodeficiency 57 75 29 6 40 73
Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related 13
Cryptosporidiosis-Chronic Cholangitis-Liver Disease Syndrome 59
Autosomal Recessive Primary Immunodeficiency Il21r-Related 75
Il21rid 75
Imd56 57

Characteristics:

Orphanet epidemiological data:

59
cryptosporidiosis-chronic cholangitis-liver disease syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

32
immunodeficiency 56:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


Summaries for Immunodeficiency 56

OMIM : 57 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). (615207)

MalaCards based summary : Immunodeficiency 56, is also known as il21r immunodeficiency. An important gene associated with Immunodeficiency 56 is IL21R (Interleukin 21 Receptor). Affiliated tissues include nk cells, t cells and b cells, and related phenotypes are failure to thrive and immunodeficiency

UniProtKB/Swiss-Prot : 75 IL21R immunodeficiency: 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.

Related Diseases for Immunodeficiency 56

Symptoms & Phenotypes for Immunodeficiency 56

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
failure to thrive

Abdomen Liver:
cirrhosis
liver failure
fibrosis
hepatitis, chronic, due to cryptosporidium infection

Respiratory Lung:
bronchiectasis
pneumonia

Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
diarrhea, recurrent

Respiratory:
recurrent respiratory infections

Immunology:
recurrent infections
increased igm
decreased igg
septicemia
normal numbers of lymphocytes and nk cells
more
Abdomen Biliary Tract:
cholangitis

Head And Neck Face:
sinusitis, recurrent


Clinical features from OMIM:

615207

Human phenotypes related to Immunodeficiency 56:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 immunodeficiency 32 HP:0002721
3 cirrhosis 32 HP:0001394
4 chronic diarrhea 32 HP:0002028
5 hepatic failure 32 HP:0001399
6 bronchiectasis 32 HP:0002110
7 pneumonia 32 HP:0002090
8 recurrent sinusitis 32 HP:0011108
9 cholangitis 32 HP:0030151
10 chronic hepatitis due to cryptosporidium infection 32 HP:0200124

Drugs & Therapeutics for Immunodeficiency 56

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 56

Genetic Tests for Immunodeficiency 56

Genetic tests related to Immunodeficiency 56:

# Genetic test Affiliating Genes
1 Il21r Immunodeficiency 29 IL21R

Anatomical Context for Immunodeficiency 56

MalaCards organs/tissues related to Immunodeficiency 56:

41
Nk Cells, T Cells, B Cells, Liver

Publications for Immunodeficiency 56

Variations for Immunodeficiency 56

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 56:

75
# Symbol AA change Variation ID SNP ID
1 IL21R p.Arg201Leu VAR_069899 rs397514685

ClinVar genetic disease variations for Immunodeficiency 56:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL21R NM_181079.4(IL21R): c.307_312delTGCCAC (p.Cys103_His104del) deletion Pathogenic rs886037632 GRCh38 Chromosome 16, 27437576: 27437581
2 IL21R NM_181079.4(IL21R): c.307_312delTGCCAC (p.Cys103_His104del) deletion Pathogenic rs886037632 GRCh37 Chromosome 16, 27448897: 27448902
3 IL21R NM_181079.4(IL21R): c.668G> T (p.Arg223Leu) single nucleotide variant Pathogenic rs397514685 GRCh37 Chromosome 16, 27455957: 27455957
4 IL21R NM_181079.4(IL21R): c.668G> T (p.Arg223Leu) single nucleotide variant Pathogenic rs397514685 GRCh38 Chromosome 16, 27444636: 27444636
5 IL21R NM_181079.4(IL21R): c.533A> G (p.Tyr178Cys) single nucleotide variant Uncertain significance rs745372589 GRCh37 Chromosome 16, 27454397: 27454397
6 IL21R NM_181079.4(IL21R): c.533A> G (p.Tyr178Cys) single nucleotide variant Uncertain significance rs745372589 GRCh38 Chromosome 16, 27443076: 27443076
7 IL21R NM_181079.4(IL21R): c.1099G> A (p.Gly367Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56148525 GRCh37 Chromosome 16, 27460020: 27460020
8 IL21R NM_181079.4(IL21R): c.1099G> A (p.Gly367Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs56148525 GRCh38 Chromosome 16, 27448699: 27448699
9 IL21R NM_181079.4(IL21R): c.890G> A (p.Arg297Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs52822694 GRCh38 Chromosome 16, 27446045: 27446045
10 IL21R NM_181079.4(IL21R): c.890G> A (p.Arg297Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs52822694 GRCh37 Chromosome 16, 27457366: 27457366
11 IL21R NM_021798.3(IL21R): c.137C> T (p.Thr46Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137946070 GRCh38 Chromosome 16, 27434434: 27434434
12 IL21R NM_021798.3(IL21R): c.137C> T (p.Thr46Met) single nucleotide variant Conflicting interpretations of pathogenicity rs137946070 GRCh37 Chromosome 16, 27445755: 27445755
13 IL21R NM_021798.3(IL21R): c.660G> A (p.Pro220=) single nucleotide variant Likely benign rs747035204 GRCh37 Chromosome 16, 27456015: 27456015
14 IL21R NM_021798.3(IL21R): c.660G> A (p.Pro220=) single nucleotide variant Likely benign rs747035204 GRCh38 Chromosome 16, 27444694: 27444694
15 IL21R NM_021798.3(IL21R): c.531A> G (p.Ser177=) single nucleotide variant Benign rs3093369 GRCh37 Chromosome 16, 27455886: 27455886
16 IL21R NM_021798.3(IL21R): c.531A> G (p.Ser177=) single nucleotide variant Benign rs3093369 GRCh38 Chromosome 16, 27444565: 27444565
17 IL21R NM_021798.3(IL21R): c.1450G> A (p.Gly484Ser) single nucleotide variant Benign rs3093386 GRCh38 Chromosome 16, 27449116: 27449116
18 IL21R NM_021798.3(IL21R): c.1450G> A (p.Gly484Ser) single nucleotide variant Benign rs3093386 GRCh37 Chromosome 16, 27460437: 27460437
19 IL21R NM_021798.3(IL21R): c.1032C> T (p.Asp344=) single nucleotide variant Benign rs113148369 GRCh37 Chromosome 16, 27460019: 27460019
20 IL21R NM_021798.3(IL21R): c.1032C> T (p.Asp344=) single nucleotide variant Benign rs113148369 GRCh38 Chromosome 16, 27448698: 27448698
21 IL21R NM_021798.3(IL21R): c.1442C> T (p.Pro481Leu) single nucleotide variant Uncertain significance rs141625630 GRCh38 Chromosome 16, 27449108: 27449108
22 IL21R NM_021798.3(IL21R): c.1442C> T (p.Pro481Leu) single nucleotide variant Uncertain significance rs141625630 GRCh37 Chromosome 16, 27460429: 27460429
23 IL21R NM_021798.3(IL21R): c.138G> A (p.Thr46=) single nucleotide variant Likely benign rs771721185 GRCh38 Chromosome 16, 27434435: 27434435
24 IL21R NM_021798.3(IL21R): c.138G> A (p.Thr46=) single nucleotide variant Likely benign rs771721185 GRCh37 Chromosome 16, 27445756: 27445756
25 IL21R NM_021798.3(IL21R): c.360G> A (p.Pro120=) single nucleotide variant Benign rs141558701 GRCh38 Chromosome 16, 27442969: 27442969
26 IL21R NM_021798.3(IL21R): c.360G> A (p.Pro120=) single nucleotide variant Benign rs141558701 GRCh37 Chromosome 16, 27454290: 27454290
27 IL21R NM_021798.3(IL21R): c.495C> A (p.Asp165Glu) single nucleotide variant Uncertain significance rs779790998 GRCh38 Chromosome 16, 27443104: 27443104
28 IL21R NM_021798.3(IL21R): c.495C> A (p.Asp165Glu) single nucleotide variant Uncertain significance rs779790998 GRCh37 Chromosome 16, 27454425: 27454425
29 IL21R NM_021798.3(IL21R): c.839T> C (p.Leu280Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 27446060: 27446060
30 IL21R NM_021798.3(IL21R): c.839T> C (p.Leu280Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 27457381: 27457381
31 IL21R NM_021798.3(IL21R): c.1416G> A (p.Gly472=) single nucleotide variant Likely benign rs761504519 GRCh38 Chromosome 16, 27449082: 27449082
32 IL21R NM_021798.3(IL21R): c.1416G> A (p.Gly472=) single nucleotide variant Likely benign rs761504519 GRCh37 Chromosome 16, 27460403: 27460403
33 IL21R NM_021798.3(IL21R): c.1467G> A (p.Thr489=) single nucleotide variant Benign rs56002407 GRCh37 Chromosome 16, 27460454: 27460454
34 IL21R NM_021798.3(IL21R): c.1467G> A (p.Thr489=) single nucleotide variant Benign rs56002407 GRCh38 Chromosome 16, 27449133: 27449133
35 IL21R NM_021798.3(IL21R): c.1536C> T (p.Asp512=) single nucleotide variant Likely benign rs144096734 GRCh38 Chromosome 16, 27449202: 27449202
36 IL21R NM_021798.3(IL21R): c.1536C> T (p.Asp512=) single nucleotide variant Likely benign rs144096734 GRCh37 Chromosome 16, 27460523: 27460523
37 IL21R NM_021798.3(IL21R): c.19G> A (p.Ala7Thr) single nucleotide variant Likely benign rs145338579 GRCh37 Chromosome 16, 27441411: 27441411
38 IL21R NM_021798.3(IL21R): c.19G> A (p.Ala7Thr) single nucleotide variant Likely benign rs145338579 GRCh38 Chromosome 16, 27430090: 27430090
39 IL21R NM_021798.3(IL21R): c.954C> G (p.Ser318Arg) single nucleotide variant Benign rs3093385 GRCh37 Chromosome 16, 27459941: 27459941
40 IL21R NM_021798.3(IL21R): c.954C> G (p.Ser318Arg) single nucleotide variant Benign rs3093385 GRCh38 Chromosome 16, 27448620: 27448620
41 IL21R NM_021798.3(IL21R): c.1449C> T (p.Ala483=) single nucleotide variant Likely benign rs3093408 GRCh37 Chromosome 16, 27460436: 27460436
42 IL21R NM_021798.3(IL21R): c.1449C> T (p.Ala483=) single nucleotide variant Likely benign rs3093408 GRCh38 Chromosome 16, 27449115: 27449115
43 IL21R NM_021798.3(IL21R): c.1545C> G (p.Pro515=) single nucleotide variant Benign rs74016079 GRCh37 Chromosome 16, 27460532: 27460532
44 IL21R NM_021798.3(IL21R): c.1545C> G (p.Pro515=) single nucleotide variant Benign rs74016079 GRCh38 Chromosome 16, 27449211: 27449211
45 IL21R NM_021798.3(IL21R): c.1434G> A (p.Ala478=) single nucleotide variant Likely benign rs751495849 GRCh37 Chromosome 16, 27460421: 27460421
46 IL21R NM_021798.3(IL21R): c.1434G> A (p.Ala478=) single nucleotide variant Likely benign rs751495849 GRCh38 Chromosome 16, 27449100: 27449100
47 IL21R NM_021798.3(IL21R): c.453G> A (p.Lys151=) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 27454383: 27454383
48 IL21R NM_021798.3(IL21R): c.453G> A (p.Lys151=) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 27443062: 27443062

Expression for Immunodeficiency 56

Search GEO for disease gene expression data for Immunodeficiency 56.

Pathways for Immunodeficiency 56

GO Terms for Immunodeficiency 56

Sources for Immunodeficiency 56

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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