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IMD51
MCID: IMM153
MIFTS: 21

Immunodeficiency 51 (IMD51)

Categories: Genetic diseases, Immune diseases, Skin diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency 51

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MalaCards integrated aliases for Immunodeficiency 51:

Name: Immunodeficiency 51 57 75 29 6
Candidiasis, Familial, 5 75 73
Imd51 57 75
Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive 75
Candidiasis, Familial, 5, Formerly; Candf5, Formerly 57
Candidiasis, Familial, 5, Autosomal Recessive 13
Candidiasis Familial 5 Autosomal Recessive 75
Chronic Mucocutaneous Candidiasis 5 75
Candidiasis, Familial, 5, Formerly 57
Candidiasis, Familial, Type 5 40
Candf5, Formerly 57
Candf5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in first months of life


HPO:

32
immunodeficiency 51:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Skin diseases Immune diseases
See all MalaCards categories (disease lists)


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Summaries for Immunodeficiency 51

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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)

MalaCards based summary : Immunodeficiency 51, also known as candidiasis, familial, 5, is related to candidiasis, familial, 2 and candidiasis, familial, 8. An important gene associated with Immunodeficiency 51 is IL17RA (Interleukin 17 Receptor A). Affiliated tissues include skin, and related phenotypes are recurrent respiratory infections and recurrent otitis media

UniProtKB/Swiss-Prot : 75 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.

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Related Diseases for Immunodeficiency 51

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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 11.7

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Symptoms & Phenotypes for Immunodeficiency 51

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 51:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 occasional (7.5%) HP:0002205
2 recurrent otitis media 32 HP:0000403
3 pustule 32 HP:0200039
4 chronic furunculosis 32 HP:0011132
5 chronic mucocutaneous candidiasis 32 HP:0002728
6 recurrent bronchitis 32 HP:0002837
7 recurrent sinusitis 32 HP:0011108
8 folliculitis 32 HP:0025084
9 recurrent staphylococcus aureus infections 32 HP:0002726
10 cutaneous abscess 32 HP:0031292
Sources

Drugs & Therapeutics for Immunodeficiency 51

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency 51

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Genetic Tests for Immunodeficiency 51

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Genetic tests related to Immunodeficiency 51:

# Genetic test Affiliating Genes
1 Immunodeficiency 51 29 IL17RA
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Anatomical Context for Immunodeficiency 51

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MalaCards organs/tissues related to Immunodeficiency 51:

41
Skin
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Publications for Immunodeficiency 51

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Variations for Immunodeficiency 51

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ClinVar genetic disease variations for Immunodeficiency 51:

6 (show top 50) (show all 126)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL17RA NM_014339.6(IL17RA): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs387906913 GRCh37 Chromosome 22, 17585619: 17585619
2 IL17RA NM_014339.6(IL17RA): c.850C> T (p.Gln284Ter) single nucleotide variant Pathogenic rs387906913 GRCh38 Chromosome 22, 17104729: 17104729
3 IL17RA NM_014339.6(IL17RA): c.20C> T (p.Pro7Leu) single nucleotide variant Likely benign rs143652002 GRCh38 Chromosome 22, 17085111: 17085111
4 IL17RA NM_014339.6(IL17RA): c.20C> T (p.Pro7Leu) single nucleotide variant Likely benign rs143652002 GRCh37 Chromosome 22, 17566001: 17566001
5 IL17RA NM_014339.6(IL17RA): c.427C> T (p.Arg143Cys) single nucleotide variant Uncertain significance rs145378071 GRCh37 Chromosome 22, 17581248: 17581248
6 IL17RA NM_014339.6(IL17RA): c.427C> T (p.Arg143Cys) single nucleotide variant Uncertain significance rs145378071 GRCh38 Chromosome 22, 17100358: 17100358
7 IL17RA NM_014339.6(IL17RA): c.551-9G> T single nucleotide variant Benign/Likely benign rs17205308 GRCh37 Chromosome 22, 17582877: 17582877
8 IL17RA NM_014339.6(IL17RA): c.551-9G> T single nucleotide variant Benign/Likely benign rs17205308 GRCh38 Chromosome 22, 17101987: 17101987
9 IL17RA NM_014339.6(IL17RA): c.1407C> T (p.Cys469=) single nucleotide variant Conflicting interpretations of pathogenicity rs41396346 GRCh38 Chromosome 22, 17108626: 17108626
10 IL17RA NM_014339.6(IL17RA): c.1407C> T (p.Cys469=) single nucleotide variant Conflicting interpretations of pathogenicity rs41396346 GRCh37 Chromosome 22, 17589516: 17589516
11 IL17RA NM_014339.6(IL17RA): c.1689C> T (p.Gly563=) single nucleotide variant Conflicting interpretations of pathogenicity rs146292661 GRCh38 Chromosome 22, 17108908: 17108908
12 IL17RA NM_014339.6(IL17RA): c.1689C> T (p.Gly563=) single nucleotide variant Conflicting interpretations of pathogenicity rs146292661 GRCh37 Chromosome 22, 17589798: 17589798
13 IL17RA NM_014339.6(IL17RA): c.2490C> T (p.Pro830=) single nucleotide variant Benign/Likely benign rs3804060 GRCh37 Chromosome 22, 17590599: 17590599
14 IL17RA NM_014339.6(IL17RA): c.2490C> T (p.Pro830=) single nucleotide variant Benign/Likely benign rs3804060 GRCh38 Chromosome 22, 17109709: 17109709
15 IL17RA NM_014339.6(IL17RA): c.152C> T (p.Thr51Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143008696 GRCh37 Chromosome 22, 17577965: 17577965
16 IL17RA NM_014339.6(IL17RA): c.152C> T (p.Thr51Met) single nucleotide variant Conflicting interpretations of pathogenicity rs143008696 GRCh38 Chromosome 22, 17097075: 17097075
17 IL17RA NM_014339.6(IL17RA): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs148319877 GRCh38 Chromosome 22, 17108749: 17108749
18 IL17RA NM_014339.6(IL17RA): c.1530C> T (p.Asp510=) single nucleotide variant Conflicting interpretations of pathogenicity rs148319877 GRCh37 Chromosome 22, 17589639: 17589639
19 IL17RA NM_014339.6(IL17RA): c.2177C> T (p.Ser726Leu) single nucleotide variant Uncertain significance rs756332306 GRCh37 Chromosome 22, 17590286: 17590286
20 IL17RA NM_014339.6(IL17RA): c.2177C> T (p.Ser726Leu) single nucleotide variant Uncertain significance rs756332306 GRCh38 Chromosome 22, 17109396: 17109396
21 IL17RA NM_014339.6(IL17RA): c.812G> A (p.Arg271His) single nucleotide variant Uncertain significance rs775839180 GRCh37 Chromosome 22, 17584433: 17584433
22 IL17RA NM_014339.6(IL17RA): c.812G> A (p.Arg271His) single nucleotide variant Uncertain significance rs775839180 GRCh38 Chromosome 22, 17103543: 17103543
23 IL17RA NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140221307 GRCh38 Chromosome 22, 17105867: 17105867
24 IL17RA NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs140221307 GRCh37 Chromosome 22, 17586757: 17586757
25 IL17RA NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro) single nucleotide variant Uncertain significance rs369912474 GRCh38 Chromosome 22, 17108619: 17108619
26 IL17RA NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro) single nucleotide variant Uncertain significance rs369912474 GRCh37 Chromosome 22, 17589509: 17589509
27 IL17RA NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144085995 GRCh37 Chromosome 22, 17583106: 17583106
28 IL17RA NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs144085995 GRCh38 Chromosome 22, 17102216: 17102216
29 IL17RA NM_014339.6(IL17RA): c.932-10C> T single nucleotide variant Benign rs2241046 GRCh38 Chromosome 22, 17105581: 17105581
30 IL17RA NM_014339.6(IL17RA): c.932-10C> T single nucleotide variant Benign rs2241046 GRCh37 Chromosome 22, 17586471: 17586471
31 IL17RA NM_014339.6(IL17RA): c.942G> A (p.Pro314=) single nucleotide variant Conflicting interpretations of pathogenicity rs41321447 GRCh38 Chromosome 22, 17105601: 17105601
32 IL17RA NM_014339.6(IL17RA): c.942G> A (p.Pro314=) single nucleotide variant Conflicting interpretations of pathogenicity rs41321447 GRCh37 Chromosome 22, 17586491: 17586491
33 IL17RA NM_014339.6(IL17RA): c.2295G> A (p.Gln765=) single nucleotide variant Benign/Likely benign rs41482444 GRCh37 Chromosome 22, 17590404: 17590404
34 IL17RA NM_014339.6(IL17RA): c.2295G> A (p.Gln765=) single nucleotide variant Benign/Likely benign rs41482444 GRCh38 Chromosome 22, 17109514: 17109514
35 IL17RA NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs) duplication Pathogenic rs1057518744 GRCh37 Chromosome 22, 17589411: 17589427
36 IL17RA NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs) duplication Pathogenic rs1057518744 GRCh38 Chromosome 22, 17108521: 17108537
37 IL17RA NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn) single nucleotide variant Pathogenic rs1057519079 GRCh38 Chromosome 22, 17108378: 17108378
38 IL17RA NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn) single nucleotide variant Pathogenic rs1057519079 GRCh37 Chromosome 22, 17589268: 17589268
39 IL17RA NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs1057518745 GRCh37 Chromosome 22, 17578719: 17578719
40 IL17RA NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter) single nucleotide variant Pathogenic rs1057518745 GRCh38 Chromosome 22, 17097829: 17097829
41 IL17RA NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs) deletion Pathogenic rs1057518746 GRCh37 Chromosome 22, 17578791: 17578791
42 IL17RA NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs) deletion Pathogenic rs1057518746 GRCh38 Chromosome 22, 17097901: 17097901
43 IL17RA NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs) deletion Pathogenic rs1057518747 GRCh38 Chromosome 22, 17103500: 17103504
44 IL17RA NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs) deletion Pathogenic rs1057518747 GRCh37 Chromosome 22, 17584390: 17584394
45 IL17RA NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs767388612 GRCh38 Chromosome 22, 17103563: 17103563
46 IL17RA NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys) single nucleotide variant Uncertain significance rs767388612 GRCh37 Chromosome 22, 17584453: 17584453
47 IL17RA NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 17108621: 17108621
48 IL17RA NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 17589511: 17589511
49 IL17RA NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile) single nucleotide variant Likely benign rs41529049 GRCh38 Chromosome 22, 17108712: 17108712
50 IL17RA NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile) single nucleotide variant Likely benign rs41529049 GRCh37 Chromosome 22, 17589602: 17589602
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Expression for Immunodeficiency 51

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Search GEO for disease gene expression data for Immunodeficiency 51.
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Pathways for Immunodeficiency 51

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GO Terms for Immunodeficiency 51

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Sources for Immunodeficiency 51

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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