Immunodeficiency 51 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: IMM153 MIFTS: 20	Immunodeficiency 51 Categories: Genetic diseases, Immune diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Immunodeficiency 51

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: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 613953

MedGen ⁴² C4310803 C3151402

MeSH ⁴⁴ D002178

SNOMED-CT via HPO ⁶⁹ 258211005 234568006

UMLS ⁷³ C3151402

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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)

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 chronic mucocutaneous candidiasis

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

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	11.5
2	candidiasis, familial, 8	11.5

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Symptoms & Phenotypes for Immunodeficiency 51

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Respiratory:
recurrent respiratory infections (in some patients)

Skin Nails Hair Skin:
staphylococcal infections, recurrent cutaneous candidiasis

Head And Neck Mouth:
oral thrush

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

#	Description	HPO Frequency	HPO Source Accession
1	recurrent respiratory infections ³²	occasional (7.5%)	HP:0002205
2	chronic mucocutaneous candidiasis ³²		HP:0002728

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Drugs & Therapeutics for Immunodeficiency 51

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 51

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Genetic Tests for Immunodeficiency 51

Genetic tests related to Immunodeficiency 51:

#	Genetic test	Affiliating Genes
1	Immunodeficiency 51 ²⁹	IL17RA

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Anatomical Context for Immunodeficiency 51

MalaCards organs/tissues related to Immunodeficiency 51:

⁴¹

Skin

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Publications for Immunodeficiency 51

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Genes for Immunodeficiency 51

Genes related to Immunodeficiency 51 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IL17RA	Interleukin 17 Receptor A	Protein Coding	1028.39	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	27930337 21350122

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Variations for Immunodeficiency 51

ClinVar genetic disease variations for Immunodeficiency 51:

⁶

(show top 50) (show all 96)

#	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.812G> A (p.Arg271His)	single nucleotide variant	Uncertain significance	rs775839180	GRCh37	Chromosome 22, 17584433: 17584433
20	IL17RA	NM_014339.6(IL17RA): c.812G> A (p.Arg271His)	single nucleotide variant	Uncertain significance	rs775839180	GRCh38	Chromosome 22, 17103543: 17103543
21	IL17RA	NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140221307	GRCh38	Chromosome 22, 17105867: 17105867
22	IL17RA	NM_014339.6(IL17RA): c.958T> C (p.Trp320Arg)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs140221307	GRCh37	Chromosome 22, 17586757: 17586757
23	IL17RA	NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro)	single nucleotide variant	Uncertain significance	rs369912474	GRCh38	Chromosome 22, 17108619: 17108619
24	IL17RA	NM_014339.6(IL17RA): c.1400T> C (p.Leu467Pro)	single nucleotide variant	Uncertain significance	rs369912474	GRCh37	Chromosome 22, 17589509: 17589509
25	IL17RA	NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085995	GRCh37	Chromosome 22, 17583106: 17583106
26	IL17RA	NM_014339.6(IL17RA): c.676G> C (p.Glu226Gln)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144085995	GRCh38	Chromosome 22, 17102216: 17102216
27	IL17RA	NM_014339.6(IL17RA): c.932-10C> T	single nucleotide variant	Benign	rs2241046	GRCh38	Chromosome 22, 17105581: 17105581
28	IL17RA	NM_014339.6(IL17RA): c.932-10C> T	single nucleotide variant	Benign	rs2241046	GRCh37	Chromosome 22, 17586471: 17586471
29	IL17RA	NM_014339.6(IL17RA): c.942G> A (p.Pro314=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41321447	GRCh38	Chromosome 22, 17105601: 17105601
30	IL17RA	NM_014339.6(IL17RA): c.942G> A (p.Pro314=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs41321447	GRCh37	Chromosome 22, 17586491: 17586491
31	IL17RA	NM_014339.6(IL17RA): c.2295G> A (p.Gln765=)	single nucleotide variant	Benign/Likely benign	rs41482444	GRCh37	Chromosome 22, 17590404: 17590404
32	IL17RA	NM_014339.6(IL17RA): c.2295G> A (p.Gln765=)	single nucleotide variant	Benign/Likely benign	rs41482444	GRCh38	Chromosome 22, 17109514: 17109514
33	IL17RA	NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs)	duplication	Pathogenic	rs1057518744	GRCh37	Chromosome 22, 17589411: 17589427
34	IL17RA	NM_014339.6(IL17RA): c.1302_1318dup17 (p.Asn440Argfs)	duplication	Pathogenic	rs1057518744	GRCh38	Chromosome 22, 17108521: 17108537
35	IL17RA	NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn)	single nucleotide variant	Pathogenic	rs1057519079	GRCh38	Chromosome 22, 17108378: 17108378
36	IL17RA	NM_014339.6(IL17RA): c.1159G> A (p.Asp387Asn)	single nucleotide variant	Pathogenic	rs1057519079	GRCh37	Chromosome 22, 17589268: 17589268
37	IL17RA	NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter)	single nucleotide variant	Pathogenic	rs1057518745	GRCh37	Chromosome 22, 17578719: 17578719
38	IL17RA	NM_014339.6(IL17RA): c.196C> T (p.Arg66Ter)	single nucleotide variant	Pathogenic	rs1057518745	GRCh38	Chromosome 22, 17097829: 17097829
39	IL17RA	NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs)	deletion	Pathogenic	rs1057518746	GRCh37	Chromosome 22, 17578791: 17578791
40	IL17RA	NM_014339.6(IL17RA): c.268delC (p.Leu90Cysfs)	deletion	Pathogenic	rs1057518746	GRCh38	Chromosome 22, 17097901: 17097901
41	IL17RA	NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs)	deletion	Pathogenic	rs1057518747	GRCh38	Chromosome 22, 17103500: 17103504
42	IL17RA	NM_014339.6(IL17RA): c.769_773delCCAGA (p.Pro257Argfs)	deletion	Pathogenic	rs1057518747	GRCh37	Chromosome 22, 17584390: 17584394
43	IL17RA	NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys)	single nucleotide variant	Uncertain significance	rs767388612	GRCh38	Chromosome 22, 17103563: 17103563
44	IL17RA	NM_014339.6(IL17RA): c.832C> T (p.Arg278Cys)	single nucleotide variant	Uncertain significance	rs767388612	GRCh37	Chromosome 22, 17584453: 17584453
45	IL17RA	NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 22, 17108621: 17108621
46	IL17RA	NM_014339.6(IL17RA): c.1402C> T (p.Arg468Cys)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 22, 17589511: 17589511
47	IL17RA	NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile)	single nucleotide variant	Likely benign	rs41529049	GRCh38	Chromosome 22, 17108712: 17108712
48	IL17RA	NM_014339.6(IL17RA): c.1493C> T (p.Thr498Ile)	single nucleotide variant	Likely benign	rs41529049	GRCh37	Chromosome 22, 17589602: 17589602
49	IL17RA	NM_014339.6(IL17RA): c.70G> C (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs41510847	GRCh38	Chromosome 22, 17085161: 17085161
50	IL17RA	NM_014339.6(IL17RA): c.70G> C (p.Gly24Arg)	single nucleotide variant	Uncertain significance	rs41510847	GRCh37	Chromosome 22, 17566051: 17566051

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Expression for Immunodeficiency 51

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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