MCID: IMM118
MIFTS: 19

Immunodeficiency 42

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

Aliases & Classifications for Immunodeficiency 42

MalaCards integrated aliases for Immunodeficiency 42:

Name: Immunodeficiency 42 57 75 29 6
Imd42 57 75
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Rorgamma Receptor Deficiency 59
Autosomal Recessive Msmd Due to Complete Rorgamma Receptor Defiency 59
Autosomal Recessive Primary Immunodeficiency Due to Rorc Mutation 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
three unrelated families have been reported (last curated october 2015)


HPO:

32
immunodeficiency 42:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 616622
Orphanet 59 ORPHA477857
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 93297002

Summaries for Immunodeficiency 42

UniProtKB/Swiss-Prot : 75 Immunodeficiency 42: An autosomal recessive primary immunodeficiency characterized by increased susceptibility to concomitant candidiasis and mycobacteriosis. Candidiasis is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida. Mycobacteriosis is characterized by infections caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non- tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. IMD42 patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections.

MalaCards based summary : Immunodeficiency 42, is also known as imd42. An important gene associated with Immunodeficiency 42 is RORC (RAR Related Orphan Receptor C). Affiliated tissues include skin, t cells and thymus, and related phenotype is hypoplasia of the thymus.

OMIM : 57 Immunodeficiency-42 is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to mycobacterial and candidal infections beginning in infancy. Patients vaccinated with BCG are particularly at risk for developing disseminated mycobacterial infections (summary by Okada et al., 2015). (616622)

Related Diseases for Immunodeficiency 42

Symptoms & Phenotypes for Immunodeficiency 42

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
thrush

Skin Nails Hair Nails:
nail infections

Skin Nails Hair Skin:
intertrigo

Immunology:
increased susceptibility to candidal infections
increased susceptibility to mycobacterial infections
low t cells
absent type 1 nk t cells
absent mucosal associated invariant t cells
more

Clinical features from OMIM:

616622

Human phenotypes related to Immunodeficiency 42:

32
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the thymus 32 HP:0000778

Drugs & Therapeutics for Immunodeficiency 42

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 42

Genetic Tests for Immunodeficiency 42

Genetic tests related to Immunodeficiency 42:

# Genetic test Affiliating Genes
1 Immunodeficiency 42 29 RORC

Anatomical Context for Immunodeficiency 42

MalaCards organs/tissues related to Immunodeficiency 42:

41
Skin, T Cells, Thymus

Publications for Immunodeficiency 42

Variations for Immunodeficiency 42

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 42:

75
# Symbol AA change Variation ID SNP ID
1 RORC p.Ser38Leu VAR_073725 rs774357869

ClinVar genetic disease variations for Immunodeficiency 42:

6
(show all 26)
# Gene Variation Type Significance SNP ID Assembly Location
1 RORC NM_005060.3(RORC): c.113C> T (p.Ser38Leu) single nucleotide variant Pathogenic rs774357869 GRCh37 Chromosome 1, 151789714: 151789714
2 RORC NM_005060.3(RORC): c.113C> T (p.Ser38Leu) single nucleotide variant Pathogenic rs774357869 GRCh38 Chromosome 1, 151817238: 151817238
3 RORC NM_001001523.1(RORC): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs863225091 GRCh37 Chromosome 1, 151786045: 151786045
4 RORC NM_001001523.1(RORC): c.922C> T (p.Gln308Ter) single nucleotide variant Pathogenic rs863225091 GRCh38 Chromosome 1, 151813569: 151813569
5 RORC NM_001001523.1(RORC): c.1258C> T (p.Gln420Ter) single nucleotide variant Pathogenic rs863225092 GRCh37 Chromosome 1, 151783875: 151783875
6 RORC NM_001001523.1(RORC): c.1258C> T (p.Gln420Ter) single nucleotide variant Pathogenic rs863225092 GRCh38 Chromosome 1, 151811399: 151811399
7 RORC NM_005060.3(RORC): c.186C> T (p.Asn62=) single nucleotide variant Benign rs34830957 GRCh38 Chromosome 1, 151816776: 151816776
8 RORC NM_005060.3(RORC): c.186C> T (p.Asn62=) single nucleotide variant Benign rs34830957 GRCh37 Chromosome 1, 151789252: 151789252
9 RORC NM_005060.3(RORC): c.28C> T (p.Arg10Ter) single nucleotide variant Uncertain significance rs17582155 GRCh38 Chromosome 1, 151831737: 151831737
10 RORC NM_005060.3(RORC): c.28C> T (p.Arg10Ter) single nucleotide variant Uncertain significance rs17582155 GRCh37 Chromosome 1, 151804213: 151804213
11 RORC NM_005060.3(RORC): c.749G> A (p.Ser250Asn) single nucleotide variant Likely benign rs41263732 GRCh37 Chromosome 1, 151787451: 151787451
12 RORC NM_005060.3(RORC): c.749G> A (p.Ser250Asn) single nucleotide variant Likely benign rs41263732 GRCh38 Chromosome 1, 151814975: 151814975
13 RORC NM_005060.3(RORC): c.1125G> A (p.Thr375=) single nucleotide variant Likely benign rs201953038 GRCh38 Chromosome 1, 151813288: 151813288
14 RORC NM_005060.3(RORC): c.1247A> G (p.Glu416Gly) single nucleotide variant Uncertain significance rs200523716 GRCh38 Chromosome 1, 151812985: 151812985
15 RORC NM_005060.3(RORC): c.1247A> G (p.Glu416Gly) single nucleotide variant Uncertain significance rs200523716 GRCh37 Chromosome 1, 151785461: 151785461
16 RORC NM_005060.3(RORC): c.1125G> A (p.Thr375=) single nucleotide variant Likely benign rs201953038 GRCh37 Chromosome 1, 151785764: 151785764
17 RORC NM_005060.3(RORC): c.595T> C (p.Ser199Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 151787605: 151787605
18 RORC NM_005060.3(RORC): c.595T> C (p.Ser199Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 151815129: 151815129
19 RORC NM_005060.3(RORC): c.33C> T (p.Ala11=) single nucleotide variant Benign rs151097632 GRCh37 Chromosome 1, 151804208: 151804208
20 RORC NM_005060.3(RORC): c.33C> T (p.Ala11=) single nucleotide variant Benign rs151097632 GRCh38 Chromosome 1, 151831732: 151831732
21 RORC NM_005060.3(RORC): c.489G> A (p.Ser163=) single nucleotide variant Benign rs146520783 GRCh38 Chromosome 1, 151815235: 151815235
22 RORC NM_005060.3(RORC): c.489G> A (p.Ser163=) single nucleotide variant Benign rs146520783 GRCh37 Chromosome 1, 151787711: 151787711
23 RORC NM_005060.3(RORC): c.990C> T (p.Tyr330=) single nucleotide variant Benign rs61754474 GRCh37 Chromosome 1, 151786040: 151786040
24 RORC NM_005060.3(RORC): c.990C> T (p.Tyr330=) single nucleotide variant Benign rs61754474 GRCh38 Chromosome 1, 151813564: 151813564
25 RORC NM_005060.3(RORC): c.1070C> T (p.Ala357Val) single nucleotide variant Uncertain significance rs139551639 GRCh38 Chromosome 1, 151813343: 151813343
26 RORC NM_005060.3(RORC): c.1070C> T (p.Ala357Val) single nucleotide variant Uncertain significance rs139551639 GRCh37 Chromosome 1, 151785819: 151785819

Expression for Immunodeficiency 42

Search GEO for disease gene expression data for Immunodeficiency 42.

Pathways for Immunodeficiency 42

GO Terms for Immunodeficiency 42

Sources for Immunodeficiency 42

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
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