IMD32B
MCID: IMM138
MIFTS: 26

Immunodeficiency 32b (IMD32B)

Categories: Genetic diseases, Immune diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 32b

MalaCards integrated aliases for Immunodeficiency 32b:

Name: Immunodeficiency 32b 58 76 30 6
Immunodeficiency 32b, Monocyte, Dendritic Cell, and Natural Killer Cell Deficiency, Autosomal Recessive 58 76
Irf8 Deficiency, Autosomal Recessive 58 76
Imd32b 58 76
Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 58
Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 74
Epstein-Barr Virus, Susceptibility to Chronic Infection by 58
Autosomal Recessive Monocyte and Dendritic Cell Deficiency 76
Chronic Epstein-Barr Virus Infection Syndrome 60
Epstein-Barr Virus Chronic Infection by 58
Chronic Ebv Infection Syndrome 60
Immunodeficiency, Type 32b 41
Caebv Syndrome 60

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in childhood


HPO:

33
immunodeficiency 32b:
Onset and clinical course infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare infectious diseases


External Ids:

OMIM 58 226990
MeSH 45 D007153
ICD10 via Orphanet 35 B27.0
Orphanet 60 ORPHA2566
MedGen 43 C4016741
UMLS 74 C3808590

Summaries for Immunodeficiency 32b

OMIM : 58 Immunodeficiency-32B is an autosomal recessive primary immunodeficiency characterized by recurrent infections resulting from variable defects in immune cell development or function, including monocytes, dendritic cells, and natural killer (NK) cells. Patients have particular susceptibility to viral disease (summary by Mace et al., 2017). (226990)

MalaCards based summary : Immunodeficiency 32b, also known as immunodeficiency 32b, monocyte, dendritic cell, and natural killer cell deficiency, autosomal recessive, is related to temporal arteritis and immunodeficiency 32a. An important gene associated with Immunodeficiency 32b is IRF8 (Interferon Regulatory Factor 8). Affiliated tissues include monocytes, nk cells and myeloid, and related phenotypes are failure to thrive and splenomegaly

UniProtKB/Swiss-Prot : 76 Immunodeficiency 32B: An autosomal recessive primary immunodeficiency characterized by monocyte and dendritic cell deficiency, myeloproliferation, and susceptibility to severe opportunistic infections, including disseminated BCG infection and oral candidiasis.

Related Diseases for Immunodeficiency 32b

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

# Related Disease Score Top Affiliating Genes
1 temporal arteritis 10.1
2 immunodeficiency 32a 9.5 IRF8 MIR6774

Symptoms & Phenotypes for Immunodeficiency 32b

Human phenotypes related to Immunodeficiency 32b:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 33 HP:0001508
2 splenomegaly 33 HP:0001744
3 fever 33 HP:0001945
4 immunodeficiency 33 HP:0002721
5 sinusitis 33 HP:0000246
6 recurrent infections 33 HP:0002719
7 pneumonia 33 HP:0002090
8 bronchiectasis 33 HP:0002110

Symptoms via clinical synopsis from OMIM:

58
Respiratory:
recurrent respiratory infections

Immunology:
primary immunodeficiency
recurrent infections (increased susceptibility to mycobacterial infection after bcg immunization)
susceptibility to ebv infection
decreased circulating monocytes
decreased circulating dendritic cells
more

Clinical features from OMIM:

226990

Drugs & Therapeutics for Immunodeficiency 32b

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 32b

Genetic Tests for Immunodeficiency 32b

Genetic tests related to Immunodeficiency 32b:

# Genetic test Affiliating Genes
1 Immunodeficiency 32b 30 IRF8

Anatomical Context for Immunodeficiency 32b

MalaCards organs/tissues related to Immunodeficiency 32b:

42
Monocytes, Nk Cells, Myeloid

Publications for Immunodeficiency 32b

Articles related to Immunodeficiency 32b:

# Title Authors Year
1
Biallelic mutations in IRF8 impair human NK cell maturation and function. ( 27893462 )
2017
2
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. ( 25122610 )
2014
3
IRF8 mutations and human dendritic-cell immunodeficiency. ( 21524210 )
2011
4
"Chronic Epstein-Barr virus infection" syndrome and polymyalgia rheumatica. ( 2837573 )
1988
5
A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections. ( 6279813 )
1982

Variations for Immunodeficiency 32b

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

76
# Symbol AA change Variation ID SNP ID
1 IRF8 p.Lys108Glu VAR_070085 rs397514710

ClinVar genetic disease variations for Immunodeficiency 32b:

6 (show top 50) (show all 60)
# Gene Variation Type Significance SNP ID Assembly Location
1 IRF8 NM_002163.3(IRF8): c.322A> G (p.Lys108Glu) single nucleotide variant Pathogenic rs397514710 GRCh37 Chromosome 16, 85942743: 85942743
2 IRF8 NM_002163.3(IRF8): c.322A> G (p.Lys108Glu) single nucleotide variant Pathogenic rs397514710 GRCh38 Chromosome 16, 85909137: 85909137
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 GRCh37 Chromosome 16, 85945249: 85945249
8 IRF8 NM_002163.2(IRF8): c.432C> T (p.Asp144=) single nucleotide variant Benign rs16939945 GRCh38 Chromosome 16, 85911643: 85911643
9 IRF8 NM_002163.2(IRF8): c.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 GRCh37 Chromosome 16, 85954801: 85954801
10 IRF8 NM_002163.2(IRF8): c.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 GRCh38 Chromosome 16, 85921195: 85921195
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 rs1555509293 GRCh37 Chromosome 16, 85945223: 85945223
24 IRF8 NM_002163.2(IRF8): c.406A> G (p.Met136Val) single nucleotide variant Uncertain significance rs1555509293 GRCh38 Chromosome 16, 85911617: 85911617
25 IRF8 NM_002163.2(IRF8): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 GRCh37 Chromosome 16, 85952280: 85952280
26 IRF8 NM_002163.2(IRF8): c.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 GRCh38 Chromosome 16, 85918674: 85918674
27 IRF8 NM_002163.2(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 GRCh37 Chromosome 16, 85952315: 85952315
28 IRF8 NM_002163.2(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 GRCh38 Chromosome 16, 85918709: 85918709
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_002163.3(IRF8): c.1104+7dup duplication Likely benign rs749942363 GRCh38 Chromosome 16, 85920231: 85920231
32 IRF8 NM_002163.3(IRF8): c.1104+7dup duplication Likely benign rs749942363 GRCh37 Chromosome 16, 85953837: 85953837
33 IRF8 NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs) deletion Uncertain significance rs1555510153 GRCh38 Chromosome 16, 85921170: 85921171
34 IRF8 NM_002163.2(IRF8): c.1169_1170delTG (p.Val390Aspfs) deletion Uncertain significance rs1555510153 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.671C> T (p.Pro224Leu) single nucleotide variant Pathogenic rs774835569 GRCh38 Chromosome 16, 85918486: 85918486
50 IRF8 NM_002163.3(IRF8): c.671C> T (p.Pro224Leu) single nucleotide variant Pathogenic rs774835569 GRCh37 Chromosome 16, 85952092: 85952092

Expression for Immunodeficiency 32b

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

Pathways for Immunodeficiency 32b

GO Terms for Immunodeficiency 32b

Sources for Immunodeficiency 32b

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
43 MedGen
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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