IMD32A
MCID: IMM183
MIFTS: 26

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 57 74 29 6 72
Imd32a 57 74
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Interferon Regulatory Factor 8 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Irf8 Deficiency 59
Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency, Autosomal Dominant 57
Autosomal Dominant Cd11c-Positive/cd1c-Positive Dendritic Cell Deficiency 74
Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency 59
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant 57
Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis 74
Irf8 Deficiency, Autosomal Dominant 57
Msmd Due to Partial Irf8 Deficiency 59
Autosomal Dominant Irf8 Deficiency 74

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency 32a:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

MeSH 44 D007153
ICD10 via Orphanet 34 D84.8
Orphanet 59 ORPHA319600
UMLS 72 C3808589

Summaries for Immunodeficiency 32a

OMIM : 57 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, also known as imd32a, is related to immunodeficiency 32b. 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 : 74 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

Diseases related to Immunodeficiency 32a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 32b 9.2 MIR6774 IRF8

Symptoms & Phenotypes for Immunodeficiency 32a

Human phenotypes related to Immunodeficiency 32a:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
2 abnormality of immune system physiology 59 32 hallmark (90%) Very frequent (99-80%) HP:0010978
3 lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0002716
4 immunodeficiency 32 HP:0002721
5 recurrent infections 32 HP:0002719

Symptoms via clinical synopsis from OMIM:

57
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:

41
Myeloid

Publications for Immunodeficiency 32a

Articles related to Immunodeficiency 32a:

# Title Authors PMID Year
1
IRF8 mutations and human dendritic-cell immunodeficiency. 8 71
21524210 2011
2
CRISPLD2: a novel NSCLP candidate gene. 8
17616516 2007
3
Genetic determinants of susceptibility to Mycobacterial infections: IRF8, a new kid on the block. 38
23468103 2013

Variations for Immunodeficiency 32a

ClinVar genetic disease variations for Immunodeficiency 32a:

6 (show all 37)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IRF8 NM_002163.4(IRF8): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic rs397514711 16:85942659-85942659 16:85909053-85909053
2 IRF8 NM_002163.4(IRF8): c.982T> G (p.Phe328Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202046728 16:85952403-85952403 16:85918797-85918797
3 IRF8 NM_002163.4(IRF8): c.602C> T (p.Ala201Val) single nucleotide variant Uncertain significance rs144424711 16:85952023-85952023 16:85918417-85918417
4 IRF8 NM_002163.4(IRF8): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs372863612 16:85945236-85945236 16:85911630-85911630
5 IRF8 NM_002163.4(IRF8): c.406A> G (p.Met136Val) single nucleotide variant Uncertain significance rs1555509293 16:85945223-85945223 16:85911617-85911617
6 IRF8 NM_002163.4(IRF8): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 16:85952280-85952280 16:85918674-85918674
7 IRF8 NM_002163.4(IRF8): c.1030G> A (p.Gly344Ser) single nucleotide variant Uncertain significance rs36085113 16:85953756-85953756 16:85920150-85920150
8 IRF8 NM_002163.4(IRF8): c.1167_1168TG[1] (p.Val390fs) short repeat Uncertain significance rs1555510153 16:85954776-85954777 16:85921170-85921171
9 IRF8 NM_002163.4(IRF8): c.414C> G (p.Cys138Trp) single nucleotide variant Uncertain significance rs8052064 16:85945231-85945231 16:85911625-85911625
10 IRF8 NM_002163.4(IRF8): c.682C> T (p.Arg228Cys) single nucleotide variant Uncertain significance 16:85952103-85952103 16:85918497-85918497
11 IRF8 NM_002163.4(IRF8): c.1081C> T (p.Arg361Cys) single nucleotide variant Uncertain significance 16:85953807-85953807 16:85920201-85920201
12 IRF8 NM_002163.4(IRF8): c.1279dup (p.Ter427LeuextTer?) duplication Uncertain significance 16:85954886-85954886 16:85921280-85921280
13 IRF8 NM_002163.4(IRF8): c.1131G> A (p.Leu377=) single nucleotide variant Uncertain significance 16:85954738-85954738 16:85921132-85921132
14 IRF8 NM_002163.4(IRF8): c.1184A> C (p.Glu395Ala) single nucleotide variant Uncertain significance 16:85954791-85954791 16:85921185-85921185
15 IRF8 NM_002163.4(IRF8): c.1104G> A (p.Gln368=) single nucleotide variant Uncertain significance 16:85953830-85953830 16:85920224-85920224
16 IRF8 NM_002163.4(IRF8): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance 16:85942605-85942605 16:85908999-85908999
17 IRF8 NM_002163.4(IRF8): c.508C> G (p.Arg170Gly) single nucleotide variant Uncertain significance 16:85946797-85946797 16:85913191-85913191
18 IRF8 NM_002163.4(IRF8): c.780C> T (p.Ser260=) single nucleotide variant Uncertain significance 16:85952201-85952201 16:85918595-85918595
19 IRF8 NM_002163.4(IRF8): c.1093A> G (p.Ile365Val) single nucleotide variant Uncertain significance 16:85953819-85953819 16:85920213-85920213
20 IRF8 NM_002163.4(IRF8): c.1189C> A (p.Pro397Thr) single nucleotide variant Uncertain significance 16:85954796-85954796 16:85921190-85921190
21 IRF8 NM_002163.4(IRF8): c.554-5T> G single nucleotide variant Uncertain significance 16:85948074-85948074 16:85914468-85914468
22 IRF8 NM_002163.4(IRF8): c.601+6G> C single nucleotide variant Uncertain significance rs369859766 16:85948132-85948132 16:85914526-85914526
23 IRF8 NM_002163.4(IRF8): c.1161C> T (p.Ala387=) single nucleotide variant Likely benign rs183121597 16:85954768-85954768 16:85921162-85921162
24 IRF8 NM_002163.4(IRF8): c.1104+8T> G single nucleotide variant Likely benign rs749015309 16:85953838-85953838 16:85920232-85920232
25 IRF8 NM_002163.4(IRF8): c.370G> A (p.Val124Met) single nucleotide variant Likely benign rs138854374 16:85945187-85945187 16:85911581-85911581
26 IRF8 NM_002163.4(IRF8): c.1104+7dup duplication Likely benign rs749942363 16:85953837-85953837 16:85920231-85920231
27 IRF8 NM_002163.4(IRF8): c.724T> C (p.Tyr242His) single nucleotide variant Likely benign rs142267779 16:85952145-85952145 16:85918539-85918539
28 IRF8 NM_002163.4(IRF8): c.672C> T (p.Pro224=) single nucleotide variant Benign rs57770209 16:85952093-85952093 16:85918487-85918487
29 IRF8 NM_002163.4(IRF8): c.300A> G (p.Gln100=) single nucleotide variant Benign rs11545564 16:85942721-85942721 16:85909115-85909115
30 IRF8 NM_002163.4(IRF8): c.1275C> T (p.Thr425=) single nucleotide variant Benign rs147057451 16:85954882-85954882 16:85921276-85921276
31 IRF8 NM_002163.4(IRF8): c.432C> T (p.Asp144=) single nucleotide variant Benign rs16939945 16:85945249-85945249 16:85911643-85911643
32 IRF8 NM_002163.4(IRF8): c.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 16:85954801-85954801 16:85921195-85921195
33 IRF8 NM_002163.4(IRF8): c.1236A> G (p.Ser412=) single nucleotide variant Benign rs16940012 16:85954843-85954843 16:85921237-85921237
34 IRF8 NM_002163.4(IRF8): c.387C> T (p.Cys129=) single nucleotide variant Benign rs16939941 16:85945204-85945204 16:85911598-85911598
35 IRF8 NM_002163.4(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 16:85952315-85952315 16:85918709-85918709
36 IRF8 NM_002163.4(IRF8): c.495G> T (p.Pro165=) single nucleotide variant Benign rs532341216 16:85946784-85946784 16:85913178-85913178
37 IRF8 NM_002163.4(IRF8): c.813C> T (p.Phe271=) single nucleotide variant Benign rs147080359 16:85952234-85952234 16:85918628-85918628

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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