IMD32A
MCID: IMM183
MIFTS: 24

Immunodeficiency 32a (IMD32A)

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

Aliases & Classifications for Immunodeficiency 32a

MalaCards integrated aliases for Immunodeficiency 32a:

Name: Immunodeficiency 32a 56 73 29 6 71
Imd32a 56 73
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency 58
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency 58
Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant 56
Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency 73
Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency 58
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant 56
Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis 73
Irf8 Deficiency, Autosomal Dominant 56
Msmd Due to Partial Irf8 Deficiency 58
Autosomal Dominant Irf8 Deficiency 73

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases due to partial irf8 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
two unrelated patients have been reported (last curated september 2013)


HPO:

31
immunodeficiency 32a:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 614893
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319600
UMLS 71 C3808589

Summaries for Immunodeficiency 32a

OMIM : 56 Autosomal dominant IRF8 deficiency, or IMD32A, causes an abnormal peripheral blood myeloid phenotype with a marked loss of CD11C (ITGAX; 151510)-positive/CD1C (188340) dendritic cells, resulting in selective susceptibility to mycobacterial infections (Hambleton et al., 2011). (614893)

MalaCards based summary : Immunodeficiency 32a, is also known as imd32a. An important gene associated with Immunodeficiency 32a is IRF8 (Interferon Regulatory Factor 8). Affiliated tissues include myeloid, and related phenotypes are fever and abnormality of immune system physiology

UniProtKB/Swiss-Prot : 73 Immunodeficiency 32A: An immunologic disorder characterized by abnormal peripheral blood myeloid phenotype with a marked loss of CD11C-positive/CD1C dendritic cells, resulting in selective susceptibility to mycobacterial infections.

Related Diseases for Immunodeficiency 32a

Symptoms & Phenotypes for Immunodeficiency 32a

Human phenotypes related to Immunodeficiency 32a:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
2 abnormality of immune system physiology 58 31 hallmark (90%) Very frequent (99-80%) HP:0010978
3 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
4 immunodeficiency 31 HP:0002721
5 recurrent infections 31 HP:0002719

Symptoms via clinical synopsis from OMIM:

56
Immunology:
primary immunodeficiency
recurrent infections (disseminated mycobacterial infection after bcg immunization)
loss of il-12-producing circulating cd11c+/cd1c+ myeloid dendritic cells

Clinical features from OMIM:

614893

Drugs & Therapeutics for Immunodeficiency 32a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 32a

Genetic Tests for Immunodeficiency 32a

Genetic tests related to Immunodeficiency 32a:

# Genetic test Affiliating Genes
1 Immunodeficiency 32a 29 IRF8

Anatomical Context for Immunodeficiency 32a

MalaCards organs/tissues related to Immunodeficiency 32a:

40
Myeloid

Publications for Immunodeficiency 32a

Articles related to Immunodeficiency 32a:

# Title Authors PMID Year
1
IRF8 mutations and human dendritic-cell immunodeficiency. 56 6
21524210 2011
2
CRISPLD2: a novel NSCLP candidate gene. 56
17616516 2007
3
Genetic determinants of susceptibility to Mycobacterial infections: IRF8, a new kid on the block. 61
23468103 2013

Variations for Immunodeficiency 32a

ClinVar genetic disease variations for Immunodeficiency 32a:

6 (show all 24) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF8 NM_002163.4(IRF8):c.238A>G (p.Thr80Ala)SNV Pathogenic 56843 rs397514711 16:85942659-85942659 16:85909053-85909053
2 IRF8 NM_002163.4(IRF8):c.419G>A (p.Arg140His)SNV Uncertain significance 424036 rs372863612 16:85945236-85945236 16:85911630-85911630
3 IRF8 NM_002163.4(IRF8):c.602C>T (p.Ala201Val)SNV Uncertain significance 475393 rs144424711 16:85952023-85952023 16:85918417-85918417
4 IRF8 NM_002163.4(IRF8):c.406A>G (p.Met136Val)SNV Uncertain significance 542143 rs1555509293 16:85945223-85945223 16:85911617-85911617
5 IRF8 NM_002163.4(IRF8):c.859G>A (p.Val287Met)SNV Uncertain significance 542144 rs28368114 16:85952280-85952280 16:85918674-85918674
6 IRF8 NM_002163.4(IRF8):c.1030G>A (p.Gly344Ser)SNV Uncertain significance 542145 rs36085113 16:85953756-85953756 16:85920150-85920150
7 IRF8 NM_002163.4(IRF8):c.1167_1168TG[1] (p.Val390fs)short repeat Uncertain significance 542146 rs1555510153 16:85954774-85954775 16:85921168-85921169
8 IRF8 NM_002163.4(IRF8):c.414C>G (p.Cys138Trp)SNV Uncertain significance 542142 rs8052064 16:85945231-85945231 16:85911625-85911625
9 IRF8 NM_002163.4(IRF8):c.601+6G>CSNV Uncertain significance 542153 rs369859766 16:85948132-85948132 16:85914526-85914526
10 IRF8 NM_002163.4(IRF8):c.682C>T (p.Arg228Cys)SNV Uncertain significance 565526 rs148746145 16:85952103-85952103 16:85918497-85918497
11 IRF8 NM_002163.4(IRF8):c.1081C>T (p.Arg361Cys)SNV Uncertain significance 568546 rs771773479 16:85953807-85953807 16:85920201-85920201
12 IRF8 NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)duplication Uncertain significance 583095 rs1567479117 16:85954885-85954886 16:85921279-85921280
13 IRF8 NM_002163.4(IRF8):c.1131G>A (p.Leu377=)SNV Uncertain significance 571600 rs141548724 16:85954738-85954738 16:85921132-85921132
14 IRF8 NM_002163.4(IRF8):c.1184A>C (p.Glu395Ala)SNV Uncertain significance 579269 rs1567479042 16:85954791-85954791 16:85921185-85921185
15 IRF8 NM_002163.4(IRF8):c.1104G>A (p.Gln368=)SNV Uncertain significance 623891 rs377181003 16:85953830-85953830 16:85920224-85920224
16 IRF8 NM_002163.4(IRF8):c.184G>A (p.Val62Ile)SNV Uncertain significance 661293 16:85942605-85942605 16:85908999-85908999
17 IRF8 NM_002163.4(IRF8):c.508C>G (p.Arg170Gly)SNV Uncertain significance 645748 16:85946797-85946797 16:85913191-85913191
18 IRF8 NM_002163.4(IRF8):c.780C>T (p.Ser260=)SNV Uncertain significance 646032 16:85952201-85952201 16:85918595-85918595
19 IRF8 NM_002163.4(IRF8):c.1093A>G (p.Ile365Val)SNV Uncertain significance 665990 16:85953819-85953819 16:85920213-85920213
20 IRF8 NM_002163.4(IRF8):c.1189C>A (p.Pro397Thr)SNV Uncertain significance 643778 16:85954796-85954796 16:85921190-85921190
21 IRF8 NM_002163.4(IRF8):c.554-5T>GSNV Uncertain significance 642755 16:85948074-85948074 16:85914468-85914468
22 IRF8 NM_002163.4(IRF8):c.300A>G (p.Gln100=)SNV Benign 475389 rs11545564 16:85942721-85942721 16:85909115-85909115
23 IRF8 NM_002163.4(IRF8):c.432C>T (p.Asp144=)SNV Benign 475391 rs16939945 16:85945249-85945249 16:85911643-85911643
24 IRF8 NM_002163.4(IRF8):c.1194G>A (p.Pro398=)SNV Benign 475386 rs2270503 16:85954801-85954801 16:85921195-85921195

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 32a:

73
# Symbol AA change Variation ID SNP ID
1 IRF8 p.Thr80Ala VAR_070084 rs397514711

Expression for Immunodeficiency 32a

Search GEO for disease gene expression data for Immunodeficiency 32a.

Pathways for Immunodeficiency 32a

GO Terms for Immunodeficiency 32a

Sources for Immunodeficiency 32a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....