IMD51
MCID: IMM153
MIFTS: 38

Immunodeficiency 51 (IMD51)

Categories: Genetic diseases, Immune diseases, Skin diseases

Aliases & Classifications for Immunodeficiency 51

MalaCards integrated aliases for Immunodeficiency 51:

Name: Immunodeficiency 51 57 12 72 29 6 15
Imd51 57 12 72
Candidiasis, Familial, 5 72 70
Candf5 12 72
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 72
Candidiasis, Familial, 5, Formerly; Candf5, Formerly 57
Candidiasis, Familial, 5, Autosomal Recessive 13
Candidiasis Familial 5 Autosomal Recessive 72
Chronic Mucocutaneous Candidiasis 5 72
Candidiasis, Familial, 5, Formerly 57
Candidiasis, Familial, Type 5 39
Familial Candidiasis 5 12
Candf5, Formerly 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in first months of life


HPO:

31
immunodeficiency 51:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111996
OMIM® 57 613953
OMIM Phenotypic Series 57 PS300755
MeSH 44 D002178
UMLS 70 C3151402

Summaries for Immunodeficiency 51

OMIM® : 57 Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (603149), IL17F (606496), IL17A/F, and IL17E (IL25; 605658) (summary by Levy et al., 2016). (613953) (Updated 05-Apr-2021)

MalaCards based summary : Immunodeficiency 51, also known as imd51, is related to candidiasis, familial, 2 and candidiasis, familial, 8. An important gene associated with Immunodeficiency 51 is IL17RA (Interleukin 17 Receptor A), and among its related pathways/superpathways are ERK Signaling and Development NOTCH1-mediated pathway for NF-KB activity modulation. Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and recurrent otitis media

Disease Ontology : 12 A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has material basis in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 51: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

Related Diseases for Immunodeficiency 51

Diseases related to Immunodeficiency 51 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 2 11.7
2 candidiasis, familial, 8 11.6
3 kagami-ogata syndrome 9.6 SLC32A1 NRG1

Symptoms & Phenotypes for Immunodeficiency 51

Human phenotypes related to Immunodeficiency 51:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 occasional (7.5%) HP:0002205
2 recurrent otitis media 31 HP:0000403
3 pustule 31 HP:0200039
4 recurrent staphylococcus aureus infections 31 HP:0002726
5 chronic furunculosis 31 HP:0011132
6 chronic mucocutaneous candidiasis 31 HP:0002728
7 recurrent bronchitis 31 HP:0002837
8 recurrent sinusitis 31 HP:0011108
9 cutaneous abscess 31 HP:0031292
10 folliculitis 31 HP:0025084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
oral thrush

Respiratory:
recurrent respiratory infections (in some patients)

Skin Nails Hair Skin:
staphylococcal infections, recurrent cutaneous candidiasis

Head And Neck Ears:
otitis, recurrent (in some patients)

Respiratory Lung:
lobar pneumonia (in some patients)

Immunology:
susceptibility to chronic mucocutaneous candidiasis
susceptibility to staphylococcal skin infections
susceptibility to other bacterial infections (in some patients)
impaired cellular response to stimulation with certain il17 isoforms

Clinical features from OMIM®:

613953 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability ratio GR00368-A 8.92 APH1A IL17RA NRG1 SLC32A1

Drugs & Therapeutics for Immunodeficiency 51

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 51

Genetic Tests for Immunodeficiency 51

Genetic tests related to Immunodeficiency 51:

# Genetic test Affiliating Genes
1 Immunodeficiency 51 29 IL17RA

Anatomical Context for Immunodeficiency 51

MalaCards organs/tissues related to Immunodeficiency 51:

40
Skin

Publications for Immunodeficiency 51

Articles related to Immunodeficiency 51:

# Title Authors PMID Year
1
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency. 6 57
27930337 2016
2
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. 6 57
21350122 2011
3
Influenza A inhibits Th17-mediated host defense against bacterial pneumonia in mice. 57
21178015 2011
4
IL-17 receptor knockout mice have enhanced myelotoxicity and impaired hemopoietic recovery following gamma irradiation. 57
16670328 2006
5
An IL17RA frameshift variant in a Holstein cattle family with psoriasis-like skin alterations and immunodeficiency. 61
32448141 2020
6
The prognostic significance of EBV DNA load and EBER status in diagnostic specimens from diffuse large B-cell lymphoma patients. 61
26177728 2017

Variations for Immunodeficiency 51

ClinVar genetic disease variations for Immunodeficiency 51:

6 (show top 50) (show all 366)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL17RA NM_014339.6(IL17RA):c.850C>T (p.Gln284Ter) SNV Pathogenic 30486 rs387906913 GRCh37: 22:17585619-17585619
GRCh38: 22:17104729-17104729
2 IL17RA NM_014339.6(IL17RA):c.1302_1318dup (p.Asn440fs) Duplication Pathogenic 372204 rs1057518744 GRCh37: 22:17589406-17589407
GRCh38: 22:17108516-17108517
3 IL17RA NM_014339.6(IL17RA):c.268del (p.Leu90fs) Deletion Pathogenic 372207 rs1057518746 GRCh37: 22:17578790-17578790
GRCh38: 22:17097900-17097900
4 IL17RA NM_001289905.1(IL17RA):c.764_768CCAGA[1] (p.Pro257fs) Microsatellite Pathogenic 372208 rs1057518747 GRCh37: 22:17584385-17584389
GRCh38: 22:17103495-17103499
5 IL17RA NM_014339.6(IL17RA):c.1159G>A (p.Asp387Asn) SNV Pathogenic 372205 rs1057519079 GRCh37: 22:17589268-17589268
GRCh38: 22:17108378-17108378
6 IL17RA NM_014339.6(IL17RA):c.196C>T (p.Arg66Ter) SNV Pathogenic 372206 rs1057518745 GRCh37: 22:17578719-17578719
GRCh38: 22:17097829-17097829
7 IL17RA NM_014339.6(IL17RA):c.787C>T (p.Arg263Ter) SNV Pathogenic 580706 rs778624945 GRCh37: 22:17584408-17584408
GRCh38: 22:17103518-17103518
8 IL17RA NM_014339.6(IL17RA):c.166_169dup (p.Cys57fs) Duplication Pathogenic 649522 rs1601340933 GRCh37: 22:17578687-17578688
GRCh38: 22:17097797-17097798
9 IL17RA NM_014339.7(IL17RA):c.233del (p.Ile78fs) Deletion Pathogenic 857687 GRCh37: 22:17578756-17578756
GRCh38: 22:17097866-17097866
10 IL17RA NM_014339.7(IL17RA):c.1661C>A (p.Ser554Ter) SNV Pathogenic 1033286 GRCh37: 22:17589770-17589770
GRCh38: 22:17108880-17108880
11 IL17RA NM_014339.6(IL17RA):c.310+2T>C SNV Likely pathogenic 578680 rs201128237 GRCh37: 22:17578835-17578835
GRCh38: 22:17097945-17097945
12 IL17RA NM_014339.6(IL17RA):c.1174G>T (p.Val392Leu) SNV Conflicting interpretations of pathogenicity 542925 rs146478431 GRCh37: 22:17589283-17589283
GRCh38: 22:17108393-17108393
13 IL17RA NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val) SNV Conflicting interpretations of pathogenicity 719755 rs151166583 GRCh37: 22:17589341-17589341
GRCh38: 22:17108451-17108451
14 IL17RA NM_014339.6(IL17RA):c.1045+7G>A SNV Conflicting interpretations of pathogenicity 340589 rs572837622 GRCh37: 22:17586851-17586851
GRCh38: 22:17105961-17105961
15 IL17RA NM_014339.6(IL17RA):c.1045+6C>T SNV Conflicting interpretations of pathogenicity 340588 rs763664351 GRCh37: 22:17586850-17586850
GRCh38: 22:17105960-17105960
16 IL17RA NM_014339.7(IL17RA):c.641C>T (p.Ala214Val) SNV Conflicting interpretations of pathogenicity 749414 rs558799480 GRCh37: 22:17583071-17583071
GRCh38: 22:17102181-17102181
17 IL17RA NM_014339.6(IL17RA):c.1046G>C (p.Gly349Ala) SNV Conflicting interpretations of pathogenicity 340590 rs143897670 GRCh37: 22:17588617-17588617
GRCh38: 22:17107727-17107727
18 IL17RA NM_014339.6(IL17RA):c.465G>C (p.Gln155His) SNV Conflicting interpretations of pathogenicity 340573 rs142199303 GRCh37: 22:17581286-17581286
GRCh38: 22:17100396-17100396
19 IL17RA NM_014339.7(IL17RA):c.30T>A (p.Ala10=) SNV Conflicting interpretations of pathogenicity 714588 rs577217331 GRCh37: 22:17566011-17566011
GRCh38: 22:17085121-17085121
20 IL17RA NM_014339.7(IL17RA):c.978G>A (p.Thr326=) SNV Conflicting interpretations of pathogenicity 720214 rs143239201 GRCh37: 22:17586777-17586777
GRCh38: 22:17105887-17105887
21 IL17RA NM_014339.6(IL17RA):c.2466G>A (p.Gly822=) SNV Conflicting interpretations of pathogenicity 340612 rs373070776 GRCh37: 22:17590575-17590575
GRCh38: 22:17109685-17109685
22 IL17RA NM_014339.6(IL17RA):c.1728C>T (p.Asp576=) SNV Conflicting interpretations of pathogenicity 340604 rs767714232 GRCh37: 22:17589837-17589837
GRCh38: 22:17108947-17108947
23 IL17RA NM_014339.6(IL17RA):c.958T>C (p.Trp320Arg) SNV Conflicting interpretations of pathogenicity 340587 rs140221307 GRCh37: 22:17586757-17586757
GRCh38: 22:17105867-17105867
24 IL17RA NM_014339.6(IL17RA):c.152C>T (p.Thr51Met) SNV Conflicting interpretations of pathogenicity 340565 rs143008696 GRCh37: 22:17577965-17577965
GRCh38: 22:17097075-17097075
25 IL17RA NM_014339.6(IL17RA):c.676G>C (p.Glu226Gln) SNV Conflicting interpretations of pathogenicity 340579 rs144085995 GRCh37: 22:17583106-17583106
GRCh38: 22:17102216-17102216
26 IL17RA NM_014339.6(IL17RA):c.1493C>T (p.Thr498Ile) SNV Conflicting interpretations of pathogenicity 476362 rs41529049 GRCh37: 22:17589602-17589602
GRCh38: 22:17108712-17108712
27 IL17RA NM_014339.6(IL17RA):c.1407C>T (p.Cys469=) SNV Conflicting interpretations of pathogenicity 340597 rs41396346 GRCh37: 22:17589516-17589516
GRCh38: 22:17108626-17108626
28 IL17RA NM_014339.6(IL17RA):c.926C>T (p.Thr309Ile) SNV Uncertain significance 542912 rs776247658 GRCh37: 22:17585695-17585695
GRCh38: 22:17104805-17104805
29 IL17RA NM_014339.6(IL17RA):c.812G>A (p.Arg271His) SNV Uncertain significance 340580 rs775839180 GRCh37: 22:17584433-17584433
GRCh38: 22:17103543-17103543
30 IL17RA NM_014339.6(IL17RA):c.2087T>G (p.Leu696Arg) SNV Uncertain significance 542914 rs753376068 GRCh37: 22:17590196-17590196
GRCh38: 22:17109306-17109306
31 IL17RA NM_014339.6(IL17RA):c.1918G>A (p.Gly640Arg) SNV Uncertain significance 542915 rs1221696207 GRCh37: 22:17590027-17590027
GRCh38: 22:17109137-17109137
32 IL17RA NM_014339.6(IL17RA):c.2077C>T (p.Arg693Trp) SNV Uncertain significance 542916 rs767291636 GRCh37: 22:17590186-17590186
GRCh38: 22:17109296-17109296
33 IL17RA NM_014339.6(IL17RA):c.2239C>A (p.His747Asn) SNV Uncertain significance 542917 rs753883526 GRCh37: 22:17590348-17590348
GRCh38: 22:17109458-17109458
34 IL17RA NM_014339.6(IL17RA):c.1426G>A (p.Gly476Arg) SNV Uncertain significance 542919 rs763589779 GRCh37: 22:17589535-17589535
GRCh38: 22:17108645-17108645
35 IL17RA NM_014339.6(IL17RA):c.70G>C (p.Gly24Arg) SNV Uncertain significance 476367 rs41510847 GRCh37: 22:17566051-17566051
GRCh38: 22:17085161-17085161
36 IL17RA NM_014339.6(IL17RA):c.581C>T (p.Thr194Met) SNV Uncertain significance 476366 rs151220068 GRCh37: 22:17582916-17582916
GRCh38: 22:17102026-17102026
37 IL17RA NM_014339.6(IL17RA):c.199A>G (p.Asn67Asp) SNV Uncertain significance 340566 rs886057201 GRCh37: 22:17578722-17578722
GRCh38: 22:17097832-17097832
38 IL17RA NM_014339.6(IL17RA):c.1402C>T (p.Arg468Cys) SNV Uncertain significance 476361 rs1465132286 GRCh37: 22:17589511-17589511
GRCh38: 22:17108621-17108621
39 IL17RA NM_014339.6(IL17RA):c.*5480T>A SNV Uncertain significance 340731 rs556640863 GRCh37: 22:17596190-17596190
GRCh38: 22:17115300-17115300
40 IL17RA NM_014339.6(IL17RA):c.*2859C>T SNV Uncertain significance 340668 rs562668645 GRCh37: 22:17593569-17593569
GRCh38: 22:17112679-17112679
41 IL17RA NM_014339.6(IL17RA):c.*4649G>T SNV Uncertain significance 340714 rs886057235 GRCh37: 22:17595359-17595359
GRCh38: 22:17114469-17114469
42 IL17RA NM_014339.6(IL17RA):c.1675C>G (p.Leu559Val) SNV Uncertain significance 568916 rs751753949 GRCh37: 22:17589784-17589784
GRCh38: 22:17108894-17108894
43 IL17RA NM_014339.6(IL17RA):c.2553C>A (p.Asn851Lys) SNV Uncertain significance 571288 rs1281144372 GRCh37: 22:17590662-17590662
GRCh38: 22:17109772-17109772
44 IL17RA NM_014339.6(IL17RA):c.2476C>G (p.Leu826Val) SNV Uncertain significance 571940 rs1568924494 GRCh37: 22:17590585-17590585
GRCh38: 22:17109695-17109695
45 IL17RA NM_014339.6(IL17RA):c.2177C>T (p.Ser726Leu) SNV Uncertain significance 340609 rs756332306 GRCh37: 22:17590286-17590286
GRCh38: 22:17109396-17109396
46 IL17RA NM_014339.6(IL17RA):c.1086C>A (p.Thr362=) SNV Uncertain significance 573226 rs139716919 GRCh37: 22:17588657-17588657
GRCh38: 22:17107767-17107767
47 IL17RA NM_014339.6(IL17RA):c.2144G>A (p.Ser715Asn) SNV Uncertain significance 574324 rs747892404 GRCh37: 22:17590253-17590253
GRCh38: 22:17109363-17109363
48 IL17RA NM_014339.6(IL17RA):c.133C>A (p.Gln45Lys) SNV Uncertain significance 575944 rs1006074686 GRCh37: 22:17566114-17566114
GRCh38: 22:17085224-17085224
49 IL17RA NM_014339.6(IL17RA):c.1102G>A (p.Ala368Thr) SNV Uncertain significance 576353 rs1568923119 GRCh37: 22:17589211-17589211
GRCh38: 22:17108321-17108321
50 IL17RA NM_014339.6(IL17RA):c.1081T>C (p.Tyr361His) SNV Uncertain significance 577037 rs34545718 GRCh37: 22:17588652-17588652
GRCh38: 22:17107762-17107762

Expression for Immunodeficiency 51

Search GEO for disease gene expression data for Immunodeficiency 51.

Pathways for Immunodeficiency 51

Pathways related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 NRG1 IL17RA APH1B APH1A
2
Show member pathways
11.69 APH1B APH1A
3 11.56 APH1B APH1A
4
Show member pathways
11.52 APH1B APH1A
5
Show member pathways
11.14 APH1B APH1A
6 11.03 APH1B APH1A
7
Show member pathways
10.83 NRG1 APH1B APH1A
8 10.82 APH1B APH1A
9 10.19 APH1B APH1A

GO Terms for Immunodeficiency 51

Cellular components related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.77 SLC32A1 NRG1 IL17RA APH1B APH1A
2 plasma membrane GO:0005886 9.72 SLC32A1 NRG1 IL17RA APH1B APH1A
3 synaptic vesicle GO:0008021 9.26 SLC32A1 APH1A
4 integral component of plasma membrane GO:0005887 9.26 NRG1 IL17RA APH1B APH1A
5 GABA-ergic synapse GO:0098982 9.16 SLC32A1 NRG1
6 gamma-secretase complex GO:0070765 8.62 APH1B APH1A

Biological processes related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 Notch signaling pathway GO:0007219 9.49 APH1B APH1A
2 ephrin receptor signaling pathway GO:0048013 9.48 APH1B APH1A
3 locomotory behavior GO:0007626 9.46 NRG1 APH1B
4 protein processing GO:0016485 9.43 APH1B APH1A
5 positive regulation of catalytic activity GO:0043085 9.4 APH1B APH1A
6 membrane protein intracellular domain proteolysis GO:0031293 9.37 APH1B APH1A
7 amyloid precursor protein catabolic process GO:0042987 9.32 APH1B APH1A
8 positive regulation of endopeptidase activity GO:0010950 9.26 APH1B APH1A
9 amyloid-beta formation GO:0034205 9.16 APH1B APH1A
10 Notch receptor processing GO:0007220 8.96 APH1B APH1A
11 Notch receptor processing, ligand-dependent GO:0035333 8.62 APH1B APH1A

Molecular functions related to Immunodeficiency 51 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding, bridging GO:0030674 9.16 APH1B APH1A
2 endopeptidase activity GO:0004175 8.96 APH1B APH1A
3 endopeptidase activator activity GO:0061133 8.62 APH1B APH1A

Sources for Immunodeficiency 51

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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