IMD32B
MCID: IMM138
MIFTS: 29

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 57 74 29 6
Immunodeficiency 32b, Monocyte, Dendritic Cell, and Natural Killer Cell Deficiency, Autosomal Recessive 57 74
Irf8 Deficiency, Autosomal Recessive 57 74
Imd32b 57 74
Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 57
Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 72
Epstein-Barr Virus, Susceptibility to Chronic Infection by 57
Autosomal Recessive Monocyte and Dendritic Cell Deficiency 74
Chronic Epstein-Barr Virus Infection Syndrome 59
Epstein-Barr Virus Chronic Infection by 57
Chronic Ebv Infection Syndrome 59
Immunodeficiency, Type 32b 40
Caebv Syndrome 59

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in childhood


HPO:

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


Classifications:

Orphanet: 59  
Rare infectious diseases


External Ids:

MeSH 44 D007153
ICD10 via Orphanet 34 B27.0
Orphanet 59 ORPHA2566
MedGen 42 C4016741
UMLS 72 C3808590

Summaries for Immunodeficiency 32b

OMIM : 57 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 pharyngitis. 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 : 74 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 pharyngitis 10.1
3 sleep disorder 10.1
4 chronic fatigue syndrome 10.1
5 immunodeficiency 32a 9.2 MIR6774 IRF8

Graphical network of the top 20 diseases related to Immunodeficiency 32b:



Diseases related to Immunodeficiency 32b

Symptoms & Phenotypes for Immunodeficiency 32b

Human phenotypes related to Immunodeficiency 32b:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 32 HP:0001508
2 splenomegaly 32 HP:0001744
3 recurrent respiratory infections 32 HP:0002205
4 fever 32 HP:0001945
5 immunodeficiency 32 HP:0002721
6 sinusitis 32 HP:0000246
7 recurrent infections 32 HP:0002719
8 pneumonia 32 HP:0002090
9 bronchiectasis 32 HP:0002110

Symptoms via clinical synopsis from OMIM:

57
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 29 IRF8

Anatomical Context for Immunodeficiency 32b

MalaCards organs/tissues related to Immunodeficiency 32b:

41
Monocytes, Nk Cells, Myeloid

Publications for Immunodeficiency 32b

Articles related to Immunodeficiency 32b:

# Title Authors PMID Year
1
Biallelic mutations in IRF8 impair human NK cell maturation and function. 8 71
27893462 2017
2
IRF8 mutations and human dendritic-cell immunodeficiency. 8 71
21524210 2011
3
A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections. 8 71
6279813 1982
4
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 71
25122610 2014
5
A familial syndrome of susceptibility to chronic active Epstein-Barr virus infection. 8
6318944 1984
6
"Chronic Epstein-Barr virus infection" syndrome and polymyalgia rheumatica. 38
2837573 1988

Variations for Immunodeficiency 32b

ClinVar genetic disease variations for Immunodeficiency 32b:

6 (show all 38)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 IRF8 NM_002163.4(IRF8): c.322A> G (p.Lys108Glu) single nucleotide variant Pathogenic rs397514710 16:85942743-85942743 16:85909137-85909137
2 IRF8 NM_002163.4(IRF8): c.671C> T (p.Pro224Leu) single nucleotide variant Pathogenic rs774835569 16:85952092-85952092 16:85918486-85918486
3 IRF8 NM_002163.4(IRF8): c.982T> G (p.Phe328Val) single nucleotide variant Conflicting interpretations of pathogenicity rs202046728 16:85952403-85952403 16:85918797-85918797
4 IRF8 NM_002163.4(IRF8): c.601+6G> C single nucleotide variant Uncertain significance rs369859766 16:85948132-85948132 16:85914526-85914526
5 IRF8 NM_002163.4(IRF8): c.414C> G (p.Cys138Trp) single nucleotide variant Uncertain significance rs8052064 16:85945231-85945231 16:85911625-85911625
6 IRF8 NM_002163.4(IRF8): c.682C> T (p.Arg228Cys) single nucleotide variant Uncertain significance 16:85952103-85952103 16:85918497-85918497
7 IRF8 NM_002163.4(IRF8): c.1081C> T (p.Arg361Cys) single nucleotide variant Uncertain significance 16:85953807-85953807 16:85920201-85920201
8 IRF8 NM_002163.4(IRF8): c.1131G> A (p.Leu377=) single nucleotide variant Uncertain significance 16:85954738-85954738 16:85921132-85921132
9 IRF8 NM_002163.4(IRF8): c.1184A> C (p.Glu395Ala) single nucleotide variant Uncertain significance 16:85954791-85954791 16:85921185-85921185
10 IRF8 NM_002163.4(IRF8): c.1104G> A (p.Gln368=) single nucleotide variant Uncertain significance 16:85953830-85953830 16:85920224-85920224
11 IRF8 NM_002163.4(IRF8): c.554-5T> G single nucleotide variant Uncertain significance 16:85948074-85948074 16:85914468-85914468
12 IRF8 NM_002163.4(IRF8): c.1189C> A (p.Pro397Thr) single nucleotide variant Uncertain significance 16:85954796-85954796 16:85921190-85921190
13 IRF8 NM_002163.4(IRF8): c.1093A> G (p.Ile365Val) single nucleotide variant Uncertain significance 16:85953819-85953819 16:85920213-85920213
14 IRF8 NM_002163.4(IRF8): c.780C> T (p.Ser260=) single nucleotide variant Uncertain significance 16:85952201-85952201 16:85918595-85918595
15 IRF8 NM_002163.4(IRF8): c.508C> G (p.Arg170Gly) single nucleotide variant Uncertain significance 16:85946797-85946797 16:85913191-85913191
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.859G> A (p.Val287Met) single nucleotide variant Uncertain significance rs28368114 16:85952280-85952280 16:85918674-85918674
18 IRF8 NM_002163.4(IRF8): c.406A> G (p.Met136Val) single nucleotide variant Uncertain significance rs1555509293 16:85945223-85945223 16:85911617-85911617
19 IRF8 NM_002163.4(IRF8): c.419G> A (p.Arg140His) single nucleotide variant Uncertain significance rs372863612 16:85945236-85945236 16:85911630-85911630
20 IRF8 NM_002163.4(IRF8): c.1279dup (p.Ter427LeuextTer?) duplication Uncertain significance 16:85954886-85954886 16:85921280-85921280
21 IRF8 NM_002163.4(IRF8): c.1167_1168TG[1] (p.Val390fs) short repeat Uncertain significance rs1555510153 16:85954776-85954777 16:85921170-85921171
22 IRF8 NM_002163.4(IRF8): c.1030G> A (p.Gly344Ser) single nucleotide variant Uncertain significance rs36085113 16:85953756-85953756 16:85920150-85920150
23 IRF8 NM_002163.4(IRF8): c.602C> T (p.Ala201Val) single nucleotide variant Uncertain significance rs144424711 16:85952023-85952023 16:85918417-85918417
24 IRF8 NM_002163.4(IRF8): c.1104+7dup duplication Likely benign rs749942363 16:85953837-85953837 16:85920231-85920231
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.1161C> T (p.Ala387=) single nucleotide variant Likely benign rs183121597 16:85954768-85954768 16:85921162-85921162
27 IRF8 NM_002163.4(IRF8): c.1104+8T> G single nucleotide variant Likely benign rs749015309 16:85953838-85953838 16:85920232-85920232
28 IRF8 NM_002163.4(IRF8): c.724T> C (p.Tyr242His) single nucleotide variant Likely benign rs142267779 16:85952145-85952145 16:85918539-85918539
29 IRF8 NM_002163.4(IRF8): c.813C> T (p.Phe271=) single nucleotide variant Benign rs147080359 16:85952234-85952234 16:85918628-85918628
30 IRF8 NM_002163.4(IRF8): c.495G> T (p.Pro165=) single nucleotide variant Benign rs532341216 16:85946784-85946784 16:85913178-85913178
31 IRF8 NM_002163.4(IRF8): c.894C> T (p.Phe298=) single nucleotide variant Benign rs61995933 16:85952315-85952315 16:85918709-85918709
32 IRF8 NM_002163.4(IRF8): c.387C> T (p.Cys129=) single nucleotide variant Benign rs16939941 16:85945204-85945204 16:85911598-85911598
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.1194G> A (p.Pro398=) single nucleotide variant Benign rs2270503 16:85954801-85954801 16:85921195-85921195
35 IRF8 NM_002163.4(IRF8): c.432C> T (p.Asp144=) single nucleotide variant Benign rs16939945 16:85945249-85945249 16:85911643-85911643
36 IRF8 NM_002163.4(IRF8): c.1275C> T (p.Thr425=) single nucleotide variant Benign rs147057451 16:85954882-85954882 16:85921276-85921276
37 IRF8 NM_002163.4(IRF8): c.300A> G (p.Gln100=) single nucleotide variant Benign rs11545564 16:85942721-85942721 16:85909115-85909115
38 IRF8 NM_002163.4(IRF8): c.672C> T (p.Pro224=) single nucleotide variant Benign rs57770209 16:85952093-85952093 16:85918487-85918487

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

74
# Symbol AA change Variation ID SNP ID
1 IRF8 p.Lys108Glu VAR_070085 rs397514710

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
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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