IMD39
MCID: IMM123
MIFTS: 13

Immunodeficiency 39 (IMD39)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 39

MalaCards integrated aliases for Immunodeficiency 39:

Name: Immunodeficiency 39 58 76 30 6
Imd39 58 76
Immunodeficiency, Type 39 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
immunodeficiency 39:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616345
MeSH 45 D007153
SNOMED-CT via HPO 70 234532001 258211005

Summaries for Immunodeficiency 39

UniProtKB/Swiss-Prot : 76 Immunodeficiency 39: A primary immunodeficiency causing severe, life-threatening acute respiratory distress upon infection with H1N1 influenza A.

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

Description from OMIM: 616345

Related Diseases for Immunodeficiency 39

Symptoms & Phenotypes for Immunodeficiency 39

Human phenotypes related to Immunodeficiency 39:

33
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 33 HP:0002721

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
acute respiratory distress syndrome associated with influenza a infection

Immunology:
susceptibility to infection with influenza a infection

Clinical features from OMIM:

616345

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 30 IRF7

Anatomical Context for Immunodeficiency 39

Publications for Immunodeficiency 39

Articles related to Immunodeficiency 39:

# Title Authors Year
1
Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. ( 25814066 )
2015

Variations for Immunodeficiency 39

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

76
# Symbol AA change Variation ID SNP ID
1 IRF7 p.Phe410Val VAR_073779 rs786205223

ClinVar genetic disease variations for Immunodeficiency 39:

6 (show all 50)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF7 NM_001572.5(IRF7): c.1228T> G (p.Phe410Val) single nucleotide variant Pathogenic rs786205223 GRCh38 Chromosome 11, 613215: 613215
2 IRF7 NM_001572.5(IRF7): c.1228T> G (p.Phe410Val) single nucleotide variant Pathogenic rs786205223 GRCh37 Chromosome 11, 613215: 613215
3 IRF7 NM_001572.5(IRF7): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs375323253 GRCh38 Chromosome 11, 613094: 613094
4 IRF7 NM_001572.5(IRF7): c.1261C> T (p.Gln421Ter) single nucleotide variant Pathogenic rs375323253 GRCh37 Chromosome 11, 613094: 613094
5 IRF7 NM_004031.3(IRF7): c.223-4_223-3delTCinsAA indel Benign rs386749598 GRCh37 Chromosome 11, 615010: 615011
6 IRF7 NM_004031.3(IRF7): c.223-4_223-3delTCinsAA indel Benign rs386749598 GRCh38 Chromosome 11, 615010: 615011
7 IRF7 NM_004031.3(IRF7): c.1307G> C (p.Arg436Pro) single nucleotide variant Uncertain significance rs149039709 GRCh37 Chromosome 11, 613087: 613087
8 IRF7 NM_004031.3(IRF7): c.1307G> C (p.Arg436Pro) single nucleotide variant Uncertain significance rs149039709 GRCh38 Chromosome 11, 613087: 613087
9 IRF7 NM_004031.3(IRF7): c.699G> A (p.Leu233=) single nucleotide variant Benign rs76107421 GRCh37 Chromosome 11, 614193: 614193
10 IRF7 NM_004031.3(IRF7): c.699G> A (p.Leu233=) single nucleotide variant Benign rs76107421 GRCh38 Chromosome 11, 614193: 614193
11 IRF7 NM_004031.3(IRF7): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs41313489 GRCh37 Chromosome 11, 614243: 614243
12 IRF7 NM_004031.3(IRF7): c.899G> C (p.Gly300Ala) single nucleotide variant Uncertain significance rs763456786 GRCh38 Chromosome 11, 613583: 613583
13 IRF7 NM_004031.3(IRF7): c.899G> C (p.Gly300Ala) single nucleotide variant Uncertain significance rs763456786 GRCh37 Chromosome 11, 613583: 613583
14 IRF7 NM_004031.2(IRF7): c.886+4delA deletion Uncertain significance rs764192169 GRCh37 Chromosome 11, 613781: 613781
15 IRF7 NM_004031.2(IRF7): c.886+4delA deletion Uncertain significance rs764192169 GRCh38 Chromosome 11, 613781: 613781
16 IRF7 NM_004031.3(IRF7): c.790G> C (p.Ala264Pro) single nucleotide variant Uncertain significance rs888494437 GRCh37 Chromosome 11, 613966: 613966
17 IRF7 NM_004031.3(IRF7): c.790G> C (p.Ala264Pro) single nucleotide variant Uncertain significance rs888494437 GRCh38 Chromosome 11, 613966: 613966
18 IRF7 NM_004031.3(IRF7): c.649G> A (p.Asp217Asn) single nucleotide variant Likely benign rs41313489 GRCh38 Chromosome 11, 614243: 614243
19 IRF7 NM_004031.3(IRF7): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs375003348 GRCh38 Chromosome 11, 612770: 612770
20 IRF7 NM_004031.3(IRF7): c.1426G> A (p.Glu476Lys) single nucleotide variant Uncertain significance rs375003348 GRCh37 Chromosome 11, 612770: 612770
21 IRF7 NM_004031.3(IRF7): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs1061505 GRCh37 Chromosome 11, 613297: 613297
22 IRF7 NM_004031.3(IRF7): c.1185A> G (p.Gly395=) single nucleotide variant Likely benign rs1061505 GRCh38 Chromosome 11, 613297: 613297
23 IRF7 NM_004031.3(IRF7): c.908A> G (p.Asp303Gly) single nucleotide variant Uncertain significance rs368953537 GRCh37 Chromosome 11, 613574: 613574
24 IRF7 NM_004031.3(IRF7): c.908A> G (p.Asp303Gly) single nucleotide variant Uncertain significance rs368953537 GRCh38 Chromosome 11, 613574: 613574
25 IRF7 NM_004031.3(IRF7): c.668C> T (p.Ala223Val) single nucleotide variant Uncertain significance rs202174691 GRCh38 Chromosome 11, 614224: 614224
26 IRF7 NM_004031.3(IRF7): c.668C> T (p.Ala223Val) single nucleotide variant Uncertain significance rs202174691 GRCh37 Chromosome 11, 614224: 614224
27 IRF7 NM_004031.3(IRF7): c.222+9C> A single nucleotide variant Likely benign rs1554920272 GRCh37 Chromosome 11, 615088: 615088
28 IRF7 NM_004031.3(IRF7): c.222+9C> A single nucleotide variant Likely benign rs1554920272 GRCh38 Chromosome 11, 615088: 615088
29 IRF7 NM_004031.3(IRF7): c.1038C> T (p.Ser346=) single nucleotide variant Likely benign rs751249139 GRCh38 Chromosome 11, 613444: 613444
30 IRF7 NM_004031.3(IRF7): c.1038C> T (p.Ser346=) single nucleotide variant Likely benign rs751249139 GRCh37 Chromosome 11, 613444: 613444
31 IRF7 NM_004031.3(IRF7): c.777_789del (p.Gly260Argfs) deletion Uncertain significance GRCh38 Chromosome 11, 613967: 613979
32 IRF7 NM_004031.3(IRF7): c.777_789del (p.Gly260Argfs) deletion Uncertain significance GRCh37 Chromosome 11, 613967: 613979
33 IRF7 NM_004031.3(IRF7): c.577G> A (p.Gly193Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 614315: 614315
34 IRF7 NM_004031.3(IRF7): c.577G> A (p.Gly193Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 614315: 614315
35 IRF7 NM_004031.3(IRF7): c.356T> A (p.Val119Glu) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 614874: 614874
36 IRF7 NM_004031.3(IRF7): c.356T> A (p.Val119Glu) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 614874: 614874
37 IRF7 NM_004031.3(IRF7): c.338G> C (p.Arg113Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 614892: 614892
38 IRF7 NM_004031.3(IRF7): c.338G> C (p.Arg113Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 614892: 614892
39 IRF7 NM_004031.3(IRF7): c.44G> A (p.Arg15Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 615275: 615275
40 IRF7 NM_004031.3(IRF7): c.44G> A (p.Arg15Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 615275: 615275
41 IRF7 NM_004031.3(IRF7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 613793: 613793
42 IRF7 NM_004031.3(IRF7): c.878C> T (p.Ala293Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 613793: 613793
43 IRF7 NM_004031.3(IRF7): c.805G> T (p.Gly269Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 613951: 613951
44 IRF7 NM_004031.3(IRF7): c.805G> T (p.Gly269Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 613951: 613951
45 IRF7 NM_004031.3(IRF7): c.778G> A (p.Gly260Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 613978: 613978
46 IRF7 NM_004031.3(IRF7): c.778G> A (p.Gly260Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 613978: 613978
47 IRF7 NM_004031.3(IRF7): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 613521: 613521
48 IRF7 NM_004031.3(IRF7): c.961C> T (p.Pro321Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 613521: 613521
49 IRF7 NM_004031.3(IRF7): c.431G> A (p.Arg144Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 11, 614799: 614799
50 IRF7 NM_004031.3(IRF7): c.431G> A (p.Arg144Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 11, 614799: 614799

Expression for Immunodeficiency 39

Search GEO for disease gene expression data for Immunodeficiency 39.

Pathways for Immunodeficiency 39

GO Terms for Immunodeficiency 39

Sources for Immunodeficiency 39

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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