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IMD32A
MCID: IMM183
MIFTS: 21

Immunodeficiency 32a (IMD32A)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Symptoms & Phenotypes
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Aliases & Classifications for Immunodeficiency 32a

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MalaCards integrated aliases for Immunodeficiency 32a:

Name: Immunodeficiency 32a 57 75 29 6 73
Imd32a 57 75
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 75
Msmd Due to Partial Interferon Regulatory Factor 8 Deficiency 59
Immunodeficiency 32a, Mycobacteriosis, Autosomal Dominant 57
Autosomal Dominant Immunodeficiency 32a, Mycobacteriosis 75
Irf8 Deficiency, Autosomal Dominant 57
Msmd Due to Partial Irf8 Deficiency 59
Autosomal Dominant Irf8 Deficiency 75

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614893
Orphanet 59 ORPHA319600
ICD10 via Orphanet 34 D84.8
MeSH 44 D007153
UMLS 73 C3808589
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Summaries for Immunodeficiency 32a

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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 : 75 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.

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Related Diseases for Immunodeficiency 32a

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 32b 9.7 IRF8 MIR6774

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Symptoms & Phenotypes for Immunodeficiency 32a

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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

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
Sources

Drugs & Therapeutics for Immunodeficiency 32a

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Search Clinical Trials , NIH Clinical Center for Immunodeficiency 32a

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Genetic Tests for Immunodeficiency 32a

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Genetic tests related to Immunodeficiency 32a:

# Genetic test Affiliating Genes
1 Immunodeficiency 32a 29 IRF8
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Anatomical Context for Immunodeficiency 32a

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MalaCards organs/tissues related to Immunodeficiency 32a:

41
Myeloid
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Publications for Immunodeficiency 32a

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Variations for Immunodeficiency 32a

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

75
# Symbol AA change Variation ID SNP ID
1 IRF8 p.Thr80Ala VAR_070084 rs397514711

ClinVar genetic disease variations for Immunodeficiency 32a:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF8 NM_002163.2(IRF8): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic rs397514711 GRCh37 Chromosome 16, 85942659: 85942659
2 IRF8 NM_002163.2(IRF8): c.238A> G (p.Thr80Ala) single nucleotide variant Pathogenic rs397514711 GRCh38 Chromosome 16, 85909053: 85909053
3 IRF8 NM_002163.2(IRF8): c.300A> G (p.Gln100=) single nucleotide variant Benign rs11545564 GRCh38 Chromosome 16, 85909115: 85909115
4 IRF8 NM_002163.2(IRF8): c.300A> G (p.Gln100=) single nucleotide variant Benign rs11545564 GRCh37 Chromosome 16, 85942721: 85942721
5 IRF8 NM_002163.2(IRF8): c.1275C> T (p.Thr425=) single nucleotide variant Benign rs147057451 GRCh38 Chromosome 16, 85921276: 85921276
6 IRF8 NM_002163.2(IRF8): c.1275C> T (p.Thr425=) single nucleotide variant Benign rs147057451 GRCh37 Chromosome 16, 85954882: 85954882
7 IRF8 NM_002163.2(IRF8): c.432C> T (p.Asp144=) single nucleotide variant Benign rs16939945 GRCh38 Chromosome 16, 85911643: 85911643
8 IRF8 NM_002163.2(IRF8): c.432C> T (p.Asp144=) single nucleotide variant Benign rs16939945 GRCh37 Chromosome 16, 85945249: 85945249
9 IRF8 NM_002163.2(IRF8): c.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 GRCh38 Chromosome 16, 85921195: 85921195
10 IRF8 NM_002163.2(IRF8): c.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 GRCh37 Chromosome 16, 85954801: 85954801
11 IRF8 NM_002163.2(IRF8): c.1236A> G (p.Ser412=) single nucleotide variant Benign rs16940012 GRCh37 Chromosome 16, 85954843: 85954843
12 IRF8 NM_002163.2(IRF8): c.1236A> G (p.Ser412=) single nucleotide variant Benign rs16940012 GRCh38 Chromosome 16, 85921237: 85921237
13 IRF8 NM_002163.2(IRF8): c.387C> T (p.Cys129=) single nucleotide variant Benign rs16939941 GRCh38 Chromosome 16, 85911598: 85911598
14 IRF8 NM_002163.2(IRF8): c.387C> T (p.Cys129=) single nucleotide variant Benign rs16939941 GRCh37 Chromosome 16, 85945204: 85945204
15 IRF8 NM_002163.2(IRF8): c.602C> T (p.Ala201Val) single nucleotide variant Uncertain significance rs144424711 GRCh38 Chromosome 16, 85918417: 85918417
16 IRF8 NM_002163.2(IRF8): c.602C> T (p.Ala201Val) single nucleotide variant Uncertain significance rs144424711 GRCh37 Chromosome 16, 85952023: 85952023
17 IRF8 NM_002163.2(IRF8): c.672C> T (p.Pro224=) single nucleotide variant Benign rs57770209 GRCh38 Chromosome 16, 85918487: 85918487
18 IRF8 NM_002163.2(IRF8): c.672C> T (p.Pro224=) single nucleotide variant Benign rs57770209 GRCh37 Chromosome 16, 85952093: 85952093
19 IRF8 NM_002163.2(IRF8): c.982T> G (p.Phe328Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202046728 GRCh37 Chromosome 16, 85952403: 85952403
20 IRF8 NM_002163.2(IRF8): c.982T> G (p.Phe328Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202046728 GRCh38 Chromosome 16, 85918797: 85918797
21 IRF8 NM_002163.2(IRF8): c.724T> C (p.Tyr242His) single nucleotide variant Likely benign rs142267779 GRCh37 Chromosome 16, 85952145: 85952145
22 IRF8 NM_002163.2(IRF8): c.724T> C (p.Tyr242His) single nucleotide variant Likely benign rs142267779 GRCh38 Chromosome 16, 85918539: 85918539
23 IRF8 NM_002163.2(IRF8): c.406A> G (p.Met136Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 85911617: 85911617
24 IRF8 NM_002163.2(IRF8): c.406A> G (p.Met136Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 85945223: 85945223
25 IRF8 NM_002163.2(IRF8): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 GRCh38 Chromosome 16, 85918674: 85918674
26 IRF8 NM_002163.2(IRF8): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 GRCh37 Chromosome 16, 85952280: 85952280
27 IRF8 NM_002163.2(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 GRCh38 Chromosome 16, 85918709: 85918709
28 IRF8 NM_002163.2(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 GRCh37 Chromosome 16, 85952315: 85952315
29 IRF8 NM_002163.2(IRF8): c.1030G> A (p.Gly344Ser) single nucleotide variant Uncertain significance rs36085113 GRCh38 Chromosome 16, 85920150: 85920150
30 IRF8 NM_002163.2(IRF8): c.1030G> A (p.Gly344Ser) single nucleotide variant Uncertain significance rs36085113 GRCh37 Chromosome 16, 85953756: 85953756
31 IRF8 NM_002163.2(IRF8): c.1104+7dup duplication Likely benign GRCh38 Chromosome 16, 85920231: 85920231
32 IRF8 NM_002163.2(IRF8): c.1104+7dup duplication Likely benign GRCh37 Chromosome 16, 85953837: 85953837
33 IRF8 NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs) deletion Uncertain significance GRCh38 Chromosome 16, 85921170: 85921171
34 IRF8 NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs) deletion Uncertain significance GRCh37 Chromosome 16, 85954776: 85954777
35 IRF8 NM_002163.2(IRF8): c.370G> A (p.Val124Met) single nucleotide variant Likely benign rs138854374 GRCh38 Chromosome 16, 85911581: 85911581
36 IRF8 NM_002163.2(IRF8): c.370G> A (p.Val124Met) single nucleotide variant Likely benign rs138854374 GRCh37 Chromosome 16, 85945187: 85945187
37 IRF8 NM_002163.2(IRF8): c.414C> G (p.Cys138Trp) single nucleotide variant Uncertain significance rs8052064 GRCh38 Chromosome 16, 85911625: 85911625
38 IRF8 NM_002163.2(IRF8): c.414C> G (p.Cys138Trp) single nucleotide variant Uncertain significance rs8052064 GRCh37 Chromosome 16, 85945231: 85945231
39 IRF8 NM_002163.2(IRF8): c.495G> T (p.Pro165=) single nucleotide variant Benign rs532341216 GRCh38 Chromosome 16, 85913178: 85913178
40 IRF8 NM_002163.2(IRF8): c.495G> T (p.Pro165=) single nucleotide variant Benign rs532341216 GRCh37 Chromosome 16, 85946784: 85946784
41 IRF8 NM_002163.2(IRF8): c.601+6G> C single nucleotide variant Uncertain significance rs369859766 GRCh38 Chromosome 16, 85914526: 85914526
42 IRF8 NM_002163.2(IRF8): c.601+6G> C single nucleotide variant Uncertain significance rs369859766 GRCh37 Chromosome 16, 85948132: 85948132
43 IRF8 NM_002163.2(IRF8): c.813C> T (p.Phe271=) single nucleotide variant Benign rs147080359 GRCh37 Chromosome 16, 85952234: 85952234
44 IRF8 NM_002163.2(IRF8): c.813C> T (p.Phe271=) single nucleotide variant Benign rs147080359 GRCh38 Chromosome 16, 85918628: 85918628
45 IRF8 NM_002163.2(IRF8): c.1161C> T (p.Ala387=) single nucleotide variant Likely benign rs183121597 GRCh37 Chromosome 16, 85954768: 85954768
46 IRF8 NM_002163.2(IRF8): c.1161C> T (p.Ala387=) single nucleotide variant Likely benign rs183121597 GRCh38 Chromosome 16, 85921162: 85921162
47 IRF8 NM_002163.2(IRF8): c.1104+8T> G single nucleotide variant Likely benign rs749015309 GRCh38 Chromosome 16, 85920232: 85920232
48 IRF8 NM_002163.2(IRF8): c.1104+8T> G single nucleotide variant Likely benign rs749015309 GRCh37 Chromosome 16, 85953838: 85953838
49 IRF8 NM_002163.3(IRF8): c.682C> T (p.Arg228Cys) single nucleotide variant Uncertain significance rs148746145 GRCh38 Chromosome 16, 85918497: 85918497
50 IRF8 NM_002163.3(IRF8): c.682C> T (p.Arg228Cys) single nucleotide variant Uncertain significance rs148746145 GRCh37 Chromosome 16, 85952103: 85952103
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Expression for Immunodeficiency 32a

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

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GO Terms for Immunodeficiency 32a

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Sources for Immunodeficiency 32a

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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