IMD42
MCID: IMM118
MIFTS: 24

Immunodeficiency 42 (IMD42)

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

Aliases & Classifications for Immunodeficiency 42

MalaCards integrated aliases for Immunodeficiency 42:

Name: Immunodeficiency 42 57 12 72 29 6
Imd42 57 12 72
Autosomal Recessive Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Rorgamma Receptor Deficiency 12 58
Autosomal Recessive Msmd Due to Complete Rorgamma Receptor Defiency 12 58
Autosomal Recessive Primary Immunodeficiency Due to Rorc Mutation 12 58

Characteristics:

OMIM®:

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

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


HPO:

31
immunodeficiency 42:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111940
OMIM® 57 616622
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA477857
SNOMED-CT via HPO 68 258211005 93297002

Summaries for Immunodeficiency 42

UniProtKB/Swiss-Prot : 72 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 t cells and thymus, and related phenotype is hypoplasia of the thymus.

Disease Ontology : 12 A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has material basis in homozygous or compound heterozygous mutation in RORC on chromosome 1q21.3.

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) (Updated 05-Apr-2021)

Related Diseases for Immunodeficiency 42

Symptoms & Phenotypes for Immunodeficiency 42

Human phenotypes related to Immunodeficiency 42:

31
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the thymus 31 HP:0000778

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to candidal infections
low t cells
absent type 1 nk t cells
absent mucosal associated invariant t cells
more
Skin Nails Hair Skin:
intertrigo

Head And Neck Mouth:
thrush

Skin Nails Hair Nails:
nail infections

Clinical features from OMIM®:

616622 (Updated 05-Apr-2021)

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:

40
T Cells, Thymus

Publications for Immunodeficiency 42

Articles related to Immunodeficiency 42:

# Title Authors PMID Year
1
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. 6 57
26160376 2015
2
Retinoid-related orphan receptor gamma (RORgamma) is essential for lymphoid organogenesis and controls apoptosis during thymopoiesis. 57
10963675 2000

Variations for Immunodeficiency 42

ClinVar genetic disease variations for Immunodeficiency 42:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RORC NM_005060.4(RORC):c.985C>T (p.Gln329Ter) SNV Pathogenic 217446 rs863225091 GRCh37: 1:151786045-151786045
GRCh38: 1:151813569-151813569
2 RORC NM_005060.4(RORC):c.1321C>T (p.Gln441Ter) SNV Pathogenic 217447 rs863225092 GRCh37: 1:151783875-151783875
GRCh38: 1:151811399-151811399
3 RORC NM_005060.4(RORC):c.113C>T (p.Ser38Leu) SNV Pathogenic 217445 rs774357869 GRCh37: 1:151789714-151789714
GRCh38: 1:151817238-151817238
4 RORC NM_005060.4(RORC):c.1535C>G (p.Ser512Ter) SNV Pathogenic 1028332 GRCh37: 1:151779970-151779970
GRCh38: 1:151807494-151807494
5 RORC NM_005060.4(RORC):c.28C>T (p.Arg10Ter) SNV Conflicting interpretations of pathogenicity 475712 rs17582155 GRCh37: 1:151804213-151804213
GRCh38: 1:151831737-151831737
6 RORC NM_005060.4(RORC):c.880C>T (p.Arg294Trp) SNV Uncertain significance 1002461 GRCh37: 1:151787103-151787103
GRCh38: 1:151814627-151814627
7 RORC NM_005060.4(RORC):c.1427G>C (p.Cys476Ser) SNV Uncertain significance 1009678 GRCh37: 1:151780078-151780078
GRCh38: 1:151807602-151807602
8 RORC NM_005060.4(RORC):c.905G>A (p.Arg302Gln) SNV Uncertain significance 1010138 GRCh37: 1:151787078-151787078
GRCh38: 1:151814602-151814602
9 RORC NM_005060.4(RORC):c.686G>A (p.Cys229Tyr) SNV Uncertain significance 853697 GRCh37: 1:151787514-151787514
GRCh38: 1:151815038-151815038
10 RORC NM_005060.4(RORC):c.37C>T (p.Arg13Trp) SNV Uncertain significance 946374 GRCh37: 1:151804204-151804204
GRCh38: 1:151831728-151831728
11 RORC NM_005060.4(RORC):c.35C>T (p.Ser12Leu) SNV Uncertain significance 954403 GRCh37: 1:151804206-151804206
GRCh38: 1:151831730-151831730
12 RORC NM_005060.4(RORC):c.38G>A (p.Arg13Gln) SNV Uncertain significance 966608 GRCh37: 1:151804203-151804203
GRCh38: 1:151831727-151831727
13 RORC NM_005060.4(RORC):c.188C>T (p.Ala63Val) SNV Uncertain significance 1013992 GRCh37: 1:151789250-151789250
GRCh38: 1:151816774-151816774
14 RORC NM_005060.4(RORC):c.1468C>T (p.His490Tyr) SNV Uncertain significance 1020582 GRCh37: 1:151780037-151780037
GRCh38: 1:151807561-151807561
15 RORC NM_005060.4(RORC):c.1477G>A (p.Val493Met) SNV Uncertain significance 252645 rs138308209 GRCh37: 1:151780028-151780028
GRCh38: 1:151807552-151807552
16 RORC NM_005060.4(RORC):c.1003G>T (p.Ala335Ser) SNV Uncertain significance 835360 GRCh37: 1:151786027-151786027
GRCh38: 1:151813551-151813551
17 RORC NM_005060.4(RORC):c.1490C>T (p.Ala497Val) SNV Uncertain significance 836560 GRCh37: 1:151780015-151780015
GRCh38: 1:151807539-151807539
18 RORC NM_005060.4(RORC):c.737A>C (p.Gln246Pro) SNV Uncertain significance 851936 GRCh37: 1:151787463-151787463
GRCh38: 1:151814987-151814987
19 RORC NM_005060.4(RORC):c.1356T>A (p.His452Gln) SNV Uncertain significance 855597 GRCh37: 1:151783840-151783840
GRCh38: 1:151811364-151811364
20 RORC NM_005060.4(RORC):c.40+1G>A SNV Uncertain significance 862912 GRCh37: 1:151804200-151804200
GRCh38: 1:151831724-151831724
21 RORC NM_005060.4(RORC):c.187G>A (p.Ala63Thr) SNV Uncertain significance 935756 GRCh37: 1:151789251-151789251
GRCh38: 1:151816775-151816775
22 RORC NM_005060.4(RORC):c.1304A>G (p.Glu435Gly) SNV Uncertain significance 936652 GRCh37: 1:151783892-151783892
GRCh38: 1:151811416-151811416
23 RORC NM_005060.4(RORC):c.334G>A (p.Asp112Asn) SNV Uncertain significance 948513 GRCh37: 1:151787866-151787866
GRCh38: 1:151815390-151815390
24 RORC NM_005060.4(RORC):c.382C>G (p.Gln128Glu) SNV Uncertain significance 1035931 GRCh37: 1:151787818-151787818
GRCh38: 1:151815342-151815342
25 RORC NM_005060.4(RORC):c.1488C>A (p.Ala496=) SNV Uncertain significance 1039273 GRCh37: 1:151780017-151780017
GRCh38: 1:151807541-151807541
26 RORC NM_005060.4(RORC):c.623G>A (p.Arg208Gln) SNV Uncertain significance 1040267 GRCh37: 1:151787577-151787577
GRCh38: 1:151815101-151815101
27 RORC NM_005060.4(RORC):c.253C>T (p.His85Tyr) SNV Uncertain significance 583219 rs142141845 GRCh37: 1:151789185-151789185
GRCh38: 1:151816709-151816709
28 RORC NM_005060.4(RORC):c.1358A>T (p.His453Leu) SNV Uncertain significance 834693 GRCh37: 1:151783838-151783838
GRCh38: 1:151811362-151811362
29 RORC NM_005060.4(RORC):c.711G>T (p.Arg237Ser) SNV Uncertain significance 839577 GRCh37: 1:151787489-151787489
GRCh38: 1:151815013-151815013
30 RORC NM_005060.4(RORC):c.394C>T (p.Pro132Ser) SNV Uncertain significance 853522 GRCh37: 1:151787806-151787806
GRCh38: 1:151815330-151815330
31 RORC NM_005060.4(RORC):c.245G>A (p.Arg82Gln) SNV Uncertain significance 639355 rs200944681 GRCh37: 1:151789193-151789193
GRCh38: 1:151816717-151816717
32 RORC NM_005060.4(RORC):c.1456T>A (p.Phe486Ile) SNV Uncertain significance 640271 rs1572032352 GRCh37: 1:151780049-151780049
GRCh38: 1:151807573-151807573
33 RORC NM_005060.4(RORC):c.694C>T (p.Arg232Cys) SNV Uncertain significance 642293 rs199550478 GRCh37: 1:151787506-151787506
GRCh38: 1:151815030-151815030
34 RORC NM_005060.4(RORC):c.560C>G (p.Ser187Cys) SNV Uncertain significance 644063 rs749461528 GRCh37: 1:151787640-151787640
GRCh38: 1:151815164-151815164
35 RORC NM_005060.4(RORC):c.1545G>T (p.Gly515=) SNV Uncertain significance 646625 rs199723679 GRCh37: 1:151779960-151779960
GRCh38: 1:151807484-151807484
36 RORC NM_005060.4(RORC):c.20G>A (p.Arg7Lys) SNV Uncertain significance 648947 rs764892778 GRCh37: 1:151804221-151804221
GRCh38: 1:151831745-151831745
37 RORC NM_005060.4(RORC):c.1099C>G (p.Arg367Gly) SNV Uncertain significance 648974 rs1572036408 GRCh37: 1:151785790-151785790
GRCh38: 1:151813314-151813314
38 RORC NM_005060.4(RORC):c.1284C>A (p.Ala428=) SNV Uncertain significance 652941 rs147363563 GRCh37: 1:151785424-151785424
GRCh38: 1:151812948-151812948
39 RORC NM_005060.4(RORC):c.177G>C (p.Gln59His) SNV Uncertain significance 661887 rs200449406 GRCh37: 1:151789261-151789261
GRCh38: 1:151816785-151816785
40 RORC NM_005060.4(RORC):c.754G>A (p.Gly252Ser) SNV Uncertain significance 661973 rs200227947 GRCh37: 1:151787446-151787446
GRCh38: 1:151814970-151814970
41 RORC NM_005060.4(RORC):c.1328A>C (p.Gln443Pro) SNV Uncertain significance 663988 rs911262602 GRCh37: 1:151783868-151783868
GRCh38: 1:151811392-151811392
42 RORC NM_005060.4(RORC):c.598T>C (p.Cys200Arg) SNV Uncertain significance 641160 rs375293231 GRCh37: 1:151787602-151787602
GRCh38: 1:151815126-151815126
43 RORC NM_005060.4(RORC):c.580G>A (p.Gly194Arg) SNV Uncertain significance 933255 GRCh37: 1:151787620-151787620
GRCh38: 1:151815144-151815144
44 RORC NM_005060.4(RORC):c.466G>A (p.Gly156Arg) SNV Uncertain significance 941802 GRCh37: 1:151787734-151787734
GRCh38: 1:151815258-151815258
45 RORC NM_005060.4(RORC):c.407C>A (p.Thr136Asn) SNV Uncertain significance 951984 GRCh37: 1:151787793-151787793
GRCh38: 1:151815317-151815317
46 RORC NM_005060.4(RORC):c.1142A>T (p.Lys381Ile) SNV Uncertain significance 964849 GRCh37: 1:151785747-151785747
GRCh38: 1:151813271-151813271
47 RORC NM_005060.4(RORC):c.14C>G (p.Pro5Arg) SNV Uncertain significance 967901 GRCh37: 1:151804227-151804227
GRCh38: 1:151831751-151831751
48 RORC NM_005060.4(RORC):c.595T>C (p.Ser199Pro) SNV Uncertain significance 542375 rs1161656885 GRCh37: 1:151787605-151787605
GRCh38: 1:151815129-151815129
49 RORC NM_005060.4(RORC):c.1247A>G (p.Glu416Gly) SNV Uncertain significance 542376 rs200523716 GRCh37: 1:151785461-151785461
GRCh38: 1:151812985-151812985
50 RORC NM_005060.4(RORC):c.931A>C (p.Lys311Gln) SNV Uncertain significance 931196 GRCh37: 1:151787052-151787052
GRCh38: 1:151814576-151814576

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

72
# Symbol AA change Variation ID SNP ID
1 RORC p.Ser38Leu VAR_073725 rs774357869

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 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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