IMD39
MCID: IMM123
MIFTS: 24

Immunodeficiency 39 (IMD39)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 39

MalaCards integrated aliases for Immunodeficiency 39:

Name: Immunodeficiency 39 57 12 72 29 6 15
Imd39 57 12 72
Immunodeficiency, Type 39 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been reported (last curated may 2015)


HPO:

31
immunodeficiency 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111969
OMIM® 57 616345
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
SNOMED-CT via HPO 68 234532001 258211005

Summaries for Immunodeficiency 39

Disease Ontology : 12 A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has material basis in homozygous or compond heterozygous mutation in IRF7 on chromosome 11p15.5.

MalaCards based summary : Immunodeficiency 39, also known as imd39, is related to malaria and systemic lupus erythematosus. An important gene associated with Immunodeficiency 39 is IRF7 (Interferon Regulatory Factor 7). Related phenotype is immunodeficiency.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 39: A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A.

More information from OMIM: 616345 PS300755

Related Diseases for Immunodeficiency 39

Diseases related to Immunodeficiency 39 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 malaria 9.6 IRF7 ELANE
2 systemic lupus erythematosus 9.5 IRF7 ELANE

Symptoms & Phenotypes for Immunodeficiency 39

Human phenotypes related to Immunodeficiency 39:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory:
acute respiratory distress syndrome associated with influenza a infection

Immunology:
susceptibility to infection with influenza a infection

Clinical features from OMIM®:

616345 (Updated 20-May-2021)

Drugs & Therapeutics for Immunodeficiency 39

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 39

Genetic Tests for Immunodeficiency 39

Genetic tests related to Immunodeficiency 39:

# Genetic test Affiliating Genes
1 Immunodeficiency 39 29 IRF7

Anatomical Context for Immunodeficiency 39

Publications for Immunodeficiency 39

Articles related to Immunodeficiency 39:

# Title Authors PMID Year
1
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. 57 6
25814066 2015
2
IRF-7 is the master regulator of type-I interferon-dependent immune responses. 57
15800576 2005

Variations for Immunodeficiency 39

ClinVar genetic disease variations for Immunodeficiency 39:

6 (show top 50) (show all 134)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF7 NM_001572.5(IRF7):c.1228T>G (p.Phe410Val) SNV Pathogenic 190237 rs786205223 GRCh37: 11:613215-613215
GRCh38: 11:613215-613215
2 IRF7 NM_001572.5(IRF7):c.1261C>T (p.Gln421Ter) SNV Pathogenic 190238 rs375323253 GRCh37: 11:613094-613094
GRCh38: 11:613094-613094
3 IRF7 NM_001572.5(IRF7):c.1375C>T (p.Arg459Ter) SNV Pathogenic 1033628 GRCh37: 11:612782-612782
GRCh38: 11:612782-612782
4 IRF7 NM_001572.5(IRF7):c.434C>T (p.Ala145Val) SNV Uncertain significance 1036790 GRCh37: 11:614495-614495
GRCh38: 11:614495-614495
5 IRF7 NM_001572.5(IRF7):c.977C>G (p.Pro326Arg) SNV Uncertain significance 1042881 GRCh37: 11:613466-613466
GRCh38: 11:613466-613466
6 IRF7 NM_001572.5(IRF7):c.635G>A (p.Gly212Glu) SNV Uncertain significance 1043218 GRCh37: 11:614218-614218
GRCh38: 11:614218-614218
7 IRF7 NM_001572.5(IRF7):c.847+6T>C SNV Uncertain significance 1045060 GRCh37: 11:613779-613779
GRCh38: 11:613779-613779
8 IRF7 NM_001572.5(IRF7):c.1064C>T (p.Pro355Leu) SNV Uncertain significance 1046040 GRCh37: 11:613379-613379
GRCh38: 11:613379-613379
9 IRF7 NM_001572.5(IRF7):c.1346T>A (p.Val449Asp) SNV Uncertain significance 1046279 GRCh37: 11:613009-613009
GRCh38: 11:613009-613009
10 overlap with 47 genes NC_000011.9:g.(?_612625)_(2193840_?)dup Duplication Uncertain significance 832903 GRCh37: 11:612625-2193840
GRCh38:
11 IRF7 NM_001572.5(IRF7):c.691C>T (p.Pro231Ser) SNV Uncertain significance 1052872 GRCh37: 11:614026-614026
GRCh38: 11:614026-614026
12 IRF7 NM_001572.5(IRF7):c.769G>A (p.Glu257Lys) SNV Uncertain significance 1053201 GRCh37: 11:613863-613863
GRCh38: 11:613863-613863
13 IRF7 NM_001572.5(IRF7):c.1253G>A (p.Arg418Gln) SNV Uncertain significance 1053300 GRCh37: 11:613102-613102
GRCh38: 11:613102-613102
14 IRF7 NM_001572.5(IRF7):c.1238-6C>G SNV Uncertain significance 1055002 GRCh37: 11:613123-613123
GRCh38: 11:613123-613123
15 IRF7 NM_001572.5(IRF7):c.247G>T (p.Ala83Ser) SNV Uncertain significance 1058922 GRCh37: 11:614944-614944
GRCh38: 11:614944-614944
16 IRF7 NM_001572.5(IRF7):c.1368G>A (p.Trp456Ter) SNV Uncertain significance 1061328 GRCh37: 11:612789-612789
GRCh38: 11:612789-612789
17 IRF7 NM_001572.5(IRF7):c.210G>T (p.Trp70Cys) SNV Uncertain significance 1062988 GRCh37: 11:614981-614981
GRCh38: 11:614981-614981
18 IRF7 NM_001572.5(IRF7):c.1205C>T (p.Thr402Ile) SNV Uncertain significance 1063328 GRCh37: 11:613238-613238
GRCh38: 11:613238-613238
19 IRF7 NM_001572.5(IRF7):c.1268G>C (p.Arg423Pro) SNV Uncertain significance 476071 rs149039709 GRCh37: 11:613087-613087
GRCh38: 11:613087-613087
20 IRF7 NM_001572.5(IRF7):c.860G>C (p.Gly287Ala) SNV Uncertain significance 542688 rs763456786 GRCh37: 11:613583-613583
GRCh38: 11:613583-613583
21 IRF7 NM_001572.5(IRF7):c.1387G>A (p.Glu463Lys) SNV Uncertain significance 542689 rs375003348 GRCh37: 11:612770-612770
GRCh38: 11:612770-612770
22 IRF7 NM_001572.5(IRF7):c.751G>C (p.Ala251Pro) SNV Uncertain significance 542690 rs888494437 GRCh37: 11:613966-613966
GRCh38: 11:613966-613966
23 IRF7 NM_001572.5(IRF7):c.847+4del Deletion Uncertain significance 542691 rs764192169 GRCh37: 11:613781-613781
GRCh38: 11:613781-613781
24 IRF7 NM_001572.5(IRF7):c.869A>G (p.Asp290Gly) SNV Uncertain significance 542692 rs368953537 GRCh37: 11:613574-613574
GRCh38: 11:613574-613574
25 IRF7 NM_001572.5(IRF7):c.629C>T (p.Ala210Val) SNV Uncertain significance 542693 rs202174691 GRCh37: 11:614224-614224
GRCh38: 11:614224-614224
26 IRF7 NM_001572.5(IRF7):c.317T>A (p.Val106Glu) SNV Uncertain significance 565325 rs376350717 GRCh37: 11:614874-614874
GRCh38: 11:614874-614874
27 IRF7 NM_001572.5(IRF7):c.21-16G>A SNV Uncertain significance 566397 rs368180035 GRCh37: 11:615275-615275
GRCh38: 11:615275-615275
28 IRF7 NM_001572.5(IRF7):c.738_750del (p.Gly247fs) Deletion Uncertain significance 568378 rs779826882 GRCh37: 11:613967-613979
GRCh38: 11:613967-613979
29 IRF7 NM_001572.5(IRF7):c.739G>A (p.Gly247Arg) SNV Uncertain significance 569741 rs201379782 GRCh37: 11:613978-613978
GRCh38: 11:613978-613978
30 IRF7 NM_001572.5(IRF7):c.839C>T (p.Ala280Val) SNV Uncertain significance 571601 rs1564881781 GRCh37: 11:613793-613793
GRCh38: 11:613793-613793
31 IRF7 NM_001572.5(IRF7):c.766G>T (p.Gly256Cys) SNV Uncertain significance 573531 rs369330126 GRCh37: 11:613951-613951
GRCh38: 11:613951-613951
32 IRF7 NM_001572.5(IRF7):c.392G>A (p.Arg131Gln) SNV Uncertain significance 573866 rs201036875 GRCh37: 11:614799-614799
GRCh38: 11:614799-614799
33 IRF7 NM_001572.5(IRF7):c.299G>C (p.Arg100Pro) SNV Uncertain significance 575853 rs752300122 GRCh37: 11:614892-614892
GRCh38: 11:614892-614892
34 IRF7 NM_001572.5(IRF7):c.922C>T (p.Pro308Ser) SNV Uncertain significance 577080 rs1263250882 GRCh37: 11:613521-613521
GRCh38: 11:613521-613521
35 IRF7 NM_001572.5(IRF7):c.538G>A (p.Gly180Arg) SNV Uncertain significance 580743 rs1564883619 GRCh37: 11:614315-614315
GRCh38: 11:614315-614315
36 IRF7 NM_001572.5(IRF7):c.641G>A (p.Gly214Glu) SNV Uncertain significance 639623 rs140823442 GRCh37: 11:614212-614212
GRCh38: 11:614212-614212
37 IRF7 NM_001572.5(IRF7):c.1390G>A (p.Gly464Ser) SNV Uncertain significance 640013 rs1589916143 GRCh37: 11:612767-612767
GRCh38: 11:612767-612767
38 IRF7 NM_001572.5(IRF7):c.25G>A (p.Ala9Thr) SNV Uncertain significance 641202 rs1589925152 GRCh37: 11:615255-615255
GRCh38: 11:615255-615255
39 IRF7 NM_001572.5(IRF7):c.1393A>T (p.Thr465Ser) SNV Uncertain significance 643503 rs1589916130 GRCh37: 11:612764-612764
GRCh38: 11:612764-612764
40 IRF7 NM_001572.5(IRF7):c.854G>C (p.Ser285Thr) SNV Uncertain significance 645048 rs192177735 GRCh37: 11:613589-613589
GRCh38: 11:613589-613589
41 IRF7 NM_001572.5(IRF7):c.233G>A (p.Gly78Asp) SNV Uncertain significance 645849 rs751103357 GRCh37: 11:614958-614958
GRCh38: 11:614958-614958
42 IRF7 NM_001572.5(IRF7):c.1276_1277insT (p.Pro426fs) Insertion Uncertain significance 646477 rs1301455443 GRCh37: 11:613078-613079
GRCh38: 11:613078-613079
43 IRF7 NM_001572.5(IRF7):c.1235_1236delinsGT (p.Gln412Arg) Indel Uncertain significance 648732 rs1589917435 GRCh37: 11:613207-613208
GRCh38: 11:613207-613208
44 IRF7 NM_001572.5(IRF7):c.494G>C (p.Gly165Ala) SNV Uncertain significance 648782 rs768564343 GRCh37: 11:614359-614359
GRCh38: 11:614359-614359
45 IRF7 NM_001572.5(IRF7):c.1243G>A (p.Val415Met) SNV Uncertain significance 650234 rs368955367 GRCh37: 11:613112-613112
GRCh38: 11:613112-613112
46 IRF7 NM_001572.5(IRF7):c.871G>A (p.Val291Met) SNV Uncertain significance 652789 rs1226109716 GRCh37: 11:613572-613572
GRCh38: 11:613572-613572
47 IRF7 NM_001572.5(IRF7):c.1400G>T (p.Arg467Leu) SNV Uncertain significance 656675 rs762132411 GRCh37: 11:612757-612757
GRCh38: 11:612757-612757
48 IRF7 NC_000011.9:g.(?_612625)_(615384_?)dup Duplication Uncertain significance 656818 GRCh37: 11:612625-615384
GRCh38: 11:612625-615384
49 IRF7 NM_001572.5(IRF7):c.812T>C (p.Leu271Pro) SNV Uncertain significance 657277 rs150912530 GRCh37: 11:613820-613820
GRCh38: 11:613820-613820
50 IRF7 NM_001572.5(IRF7):c.584A>T (p.His195Leu) SNV Uncertain significance 657437 rs139709725 GRCh37: 11:614269-614269
GRCh38: 11:614269-614269

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 39:

72
# Symbol AA change Variation ID SNP ID
1 IRF7 p.Phe410Val VAR_073779 rs786205223

Expression for Immunodeficiency 39

Search GEO for disease gene expression data for Immunodeficiency 39.

Pathways for Immunodeficiency 39

GO Terms for Immunodeficiency 39

Biological processes related to Immunodeficiency 39 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.62 IRF7 ELANE

Sources for Immunodeficiency 39

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....