IMD56
MCID: IMM191
MIFTS: 28

Immunodeficiency 56 (IMD56)

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

Aliases & Classifications for Immunodeficiency 56

MalaCards integrated aliases for Immunodeficiency 56:

Name: Immunodeficiency 56 57 12 72
Il21r Immunodeficiency 57 12 72 29 6 39 70
Imd56 57 12 72
Combined Immunodeficiency Due to Il21r Deficiency 12 58
Immunodeficiency, Primary, Autosomal Recessive, Il21r-Related 13
Autosomal Recessive Primary Immunodeficiency Il21r-Related 72
Immunodeficiency Type 56 6

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to il21r deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood


HPO:

31
immunodeficiency 56:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111982
OMIM® 57 615207
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA357329
MedGen 41 C3554687
UMLS 70 C3554687

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) (Updated 05-Apr-2021)

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, b cells and liver, and related phenotypes are failure to thrive and immunodeficiency

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has material basis in homozygous or compound heterozygous mutation in IL21R on chromosome 16p12.1.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 56: 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

Human phenotypes related to Immunodeficiency 56:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 immunodeficiency 31 HP:0002721
3 cirrhosis 31 HP:0001394
4 chronic diarrhea 31 HP:0002028
5 hepatic failure 31 HP:0001399
6 pneumonia 31 HP:0002090
7 bronchiectasis 31 HP:0002110
8 recurrent sinusitis 31 HP:0011108
9 cholangitis 31 HP:0030151
10 chronic hepatitis due to cryptosporidium infection 31 HP:0200124

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
failure to thrive

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

Respiratory Lung:
pneumonia
bronchiectasis

Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
diarrhea, recurrent

Respiratory:
recurrent respiratory infections

Immunology:
recurrent infections
increased igm
decreased igg
increased ige
septicemia
more
Abdomen Biliary Tract:
cholangitis

Head And Neck Face:
sinusitis, recurrent

Clinical features from OMIM®:

615207 (Updated 05-Apr-2021)

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:

40
Nk Cells, B Cells, Liver

Publications for Immunodeficiency 56

Articles related to Immunodeficiency 56:

# Title Authors PMID Year
1
Extending the clinical and immunological phenotype of human interleukin-21 receptor deficiency. 57 6
25398835 2015
2
Loss-of-function mutations in the IL-21 receptor gene cause a primary immunodeficiency syndrome. 57 6
23440042 2013
3
[Registry of primary immunodeficiencies in children at a fourth level hospital. Bogota, 2010-2016]. 61
30602203 2018
4
Clinical characteristics of adults with chronic rhinosinusitis and specific antibody deficiency. 61
25609325 2015

Variations for Immunodeficiency 56

ClinVar genetic disease variations for Immunodeficiency 56:

6 (show top 50) (show all 123)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL21R NM_181078.3(IL21R):c.241_246del (p.Cys81_His82del) Deletion Pathogenic 42199 rs886037632 GRCh37: 16:27448896-27448901
GRCh38: 16:27437575-27437580
2 IL21R NM_181078.3(IL21R):c.602G>T (p.Arg201Leu) SNV Pathogenic 42200 rs397514685 GRCh37: 16:27455957-27455957
GRCh38: 16:27444636-27444636
3 IL21R NM_181078.3(IL21R):c.602G>A (p.Arg201Gln) SNV Pathogenic 638070 rs397514685 GRCh37: 16:27455957-27455957
GRCh38: 16:27444636-27444636
4 IL21R NM_181078.3(IL21R):c.352+1G>C SNV Likely pathogenic 973584 GRCh37: 16:27449009-27449009
GRCh38: 16:27437688-27437688
5 IL21R NM_181078.3(IL21R):c.563del (p.Leu188fs) Deletion Likely pathogenic 976232 GRCh37: 16:27455918-27455918
GRCh38: 16:27444597-27444597
6 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) SNV Conflicting interpretations of pathogenicity 225037 rs56148525 GRCh37: 16:27460020-27460020
GRCh38: 16:27448699-27448699
7 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) SNV Uncertain significance 225037 rs56148525 GRCh37: 16:27460020-27460020
GRCh38: 16:27448699-27448699
8 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1286G>C (p.Gly429Ala) SNV Uncertain significance 1032884 GRCh37: 16:27460273-27460273
GRCh38: 16:27448952-27448952
9 IL21R NM_181078.3(IL21R):c.770C>T (p.Thr257Ile) SNV Uncertain significance 1036503 GRCh37: 16:27456582-27456582
GRCh38: 16:27445261-27445261
10 IL21R NM_181078.3(IL21R):c.457A>G (p.Lys153Glu) SNV Uncertain significance 1037284 GRCh37: 16:27454387-27454387
GRCh38: 16:27443066-27443066
11 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1364A>T (p.Asp455Val) SNV Uncertain significance 1038095 GRCh37: 16:27460351-27460351
GRCh38: 16:27449030-27449030
12 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1243G>C (p.Glu415Gln) SNV Uncertain significance 1038846 GRCh37: 16:27460230-27460230
GRCh38: 16:27448909-27448909
13 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1351C>T (p.Pro451Ser) SNV Uncertain significance 1045085 GRCh37: 16:27460338-27460338
GRCh38: 16:27449017-27449017
14 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1225_1226delinsAC (p.Glu409Thr) Indel Uncertain significance 576216 rs1567374926 GRCh37: 16:27460212-27460213
GRCh38: 16:27448891-27448892
15 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1489T>C (p.Ser497Pro) SNV Uncertain significance 577161 rs1567375303 GRCh37: 16:27460476-27460476
GRCh38: 16:27449155-27449155
16 IL21R NM_181078.3(IL21R):c.3_4delinsAA (p.Met1_Pro2delinsIleThr) Indel Uncertain significance 579926 rs1567364201 GRCh37: 16:27441395-27441396
GRCh38: 16:27430074-27430075
17 IL21R NM_181078.3(IL21R):c.505G>A (p.Val169Met) SNV Uncertain significance 580552 rs142403771 GRCh37: 16:27454435-27454435
GRCh38: 16:27443114-27443114
18 IL21R NM_181078.3(IL21R):c.-17+563G>A SNV Uncertain significance 626116 rs117535117 GRCh37: 16:27414502-27414502
GRCh38: 16:27403181-27403181
19 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1460T>G (p.Met487Arg) SNV Uncertain significance 841079 GRCh37: 16:27460447-27460447
GRCh38: 16:27449126-27449126
20 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.910G>T (p.Gly304Ter) SNV Uncertain significance 843570 GRCh37: 16:27459897-27459897
GRCh38: 16:27448576-27448576
21 IL21R NM_181078.3(IL21R):c.8G>A (p.Arg3His) SNV Uncertain significance 844210 GRCh37: 16:27441400-27441400
GRCh38: 16:27430079-27430079
22 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1013C>T (p.Ala338Val) SNV Uncertain significance 844604 GRCh37: 16:27460000-27460000
GRCh38: 16:27448679-27448679
23 IL21R NM_181078.3(IL21R):c.76T>C (p.Tyr26His) SNV Uncertain significance 846065 GRCh37: 16:27445694-27445694
GRCh38: 16:27434373-27434373
24 IL21R NM_181078.3(IL21R):c.585C>G (p.Ser195Arg) SNV Uncertain significance 856101 GRCh37: 16:27455940-27455940
GRCh38: 16:27444619-27444619
25 IL21R NM_181078.3(IL21R):c.515G>C (p.Arg172Thr) SNV Uncertain significance 856698 GRCh37: 16:27455870-27455870
GRCh38: 16:27444549-27444549
26 IL21R NM_181078.3(IL21R):c.260A>G (p.His87Arg) SNV Uncertain significance 856792 GRCh37: 16:27448916-27448916
GRCh38: 16:27437595-27437595
27 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.937A>G (p.Thr313Ala) SNV Uncertain significance 858243 GRCh37: 16:27459924-27459924
GRCh38: 16:27448603-27448603
28 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1550G>A (p.Arg517Gln) SNV Uncertain significance 858671 GRCh37: 16:27460537-27460537
GRCh38: 16:27449216-27449216
29 IL21R NM_181078.3(IL21R):c.70G>T (p.Val24Phe) SNV Uncertain significance 933918 GRCh37: 16:27445688-27445688
GRCh38: 16:27434367-27434367
30 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1402C>T (p.Arg468Trp) SNV Uncertain significance 940966 GRCh37: 16:27460389-27460389
GRCh38: 16:27449068-27449068
31 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1071C>A (p.Asn357Lys) SNV Uncertain significance 942699 GRCh37: 16:27460058-27460058
GRCh38: 16:27448737-27448737
32 IL21R NM_181078.3(IL21R):c.64G>A (p.Asp22Asn) SNV Uncertain significance 944831 GRCh37: 16:27445682-27445682
GRCh38: 16:27434361-27434361
33 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.934T>C (p.Ser312Pro) SNV Uncertain significance 947096 GRCh37: 16:27459921-27459921
GRCh38: 16:27448600-27448600
34 IL21R NM_181078.3(IL21R):c.481A>G (p.Arg161Gly) SNV Uncertain significance 948560 GRCh37: 16:27454411-27454411
GRCh38: 16:27443090-27443090
35 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1277T>C (p.Leu426Pro) SNV Uncertain significance 949469 GRCh37: 16:27460264-27460264
GRCh38: 16:27448943-27448943
36 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1331G>A (p.Ser444Asn) SNV Uncertain significance 951895 GRCh37: 16:27460318-27460318
GRCh38: 16:27448997-27448997
37 IL21R NM_181078.3(IL21R):c.433C>T (p.Pro145Ser) SNV Uncertain significance 952959 GRCh37: 16:27454363-27454363
GRCh38: 16:27443042-27443042
38 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1537G>A (p.Glu513Lys) SNV Uncertain significance 961384 GRCh37: 16:27460524-27460524
GRCh38: 16:27449203-27449203
39 IL21R NM_181078.3(IL21R):c.181G>A (p.Glu61Lys) SNV Uncertain significance 972533 GRCh37: 16:27448837-27448837
GRCh38: 16:27437516-27437516
40 IL21R NM_181078.3(IL21R):c.659C>T (p.Pro220Leu) SNV Uncertain significance 973642 GRCh37: 16:27456014-27456014
GRCh38: 16:27444693-27444693
41 IL21R NM_181078.3(IL21R):c.823C>T (p.Arg275Trp) SNV Uncertain significance 639315 rs200379224 GRCh37: 16:27457365-27457365
GRCh38: 16:27446044-27446044
42 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1178G>T (p.Ser393Ile) SNV Uncertain significance 640700 rs375328425 GRCh37: 16:27460165-27460165
GRCh38: 16:27448844-27448844
43 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1543C>A (p.Pro515Thr) SNV Uncertain significance 642414 rs762518345 GRCh37: 16:27460530-27460530
GRCh38: 16:27449209-27449209
44 IL21R NM_181078.3(IL21R):c.823C>G (p.Arg275Gly) SNV Uncertain significance 644769 rs200379224 GRCh37: 16:27457365-27457365
GRCh38: 16:27446044-27446044
45 IL21R NM_181078.3(IL21R):c.615G>C (p.Met205Ile) SNV Uncertain significance 646528 rs201566028 GRCh37: 16:27455970-27455970
GRCh38: 16:27444649-27444649
46 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.875T>C (p.Val292Ala) SNV Uncertain significance 647042 rs1596599736 GRCh37: 16:27459862-27459862
GRCh38: 16:27448541-27448541
47 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.962C>A (p.Pro321Gln) SNV Uncertain significance 651217 rs747607462 GRCh37: 16:27459949-27459949
GRCh38: 16:27448628-27448628
48 IL21R NM_181078.3(IL21R):c.598G>T (p.Val200Leu) SNV Uncertain significance 651522 rs759494920 GRCh37: 16:27455953-27455953
GRCh38: 16:27444632-27444632
49 IL21R-AS1 , IL21R NM_181078.3(IL21R):c.1040C>T (p.Pro347Leu) SNV Uncertain significance 652882 rs1596600087 GRCh37: 16:27460027-27460027
GRCh38: 16:27448706-27448706
50 IL21R NM_181078.3(IL21R):c.605C>T (p.Ala202Val) SNV Uncertain significance 654227 rs147673485 GRCh37: 16:27455960-27455960
GRCh38: 16:27444639-27444639

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

72
# Symbol AA change Variation ID SNP ID
1 IL21R p.Arg201Leu VAR_069899 rs397514685

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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