IMD32B
MCID: IMM138
MIFTS: 28

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 56 73 29 6
Immunodeficiency 32b, Monocyte, Dendritic Cell, and Natural Killer Cell Deficiency, Autosomal Recessive 56 73
Irf8 Deficiency, Autosomal Recessive 56 73
Imd32b 56 73
Immunodeficiency 32b, Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 56
Monocyte and Dendritic Cell Deficiency, Autosomal Recessive 71
Epstein-Barr Virus, Susceptibility to Chronic Infection by 56
Autosomal Recessive Monocyte and Dendritic Cell Deficiency 73
Chronic Epstein-Barr Virus Infection Syndrome 58
Epstein-Barr Virus Chronic Infection by 56
Chronic Ebv Infection Syndrome 58
Immunodeficiency, Type 32b 39
Caebv Syndrome 58

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in childhood


HPO:

31
immunodeficiency 32b:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:

Orphanet: 58  
Rare infectious diseases


External Ids:

OMIM 56 226990
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 B27.0
Orphanet 58 ORPHA2566
MedGen 41 C4016741
UMLS 71 C3808590

Summaries for Immunodeficiency 32b

OMIM : 56 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 splenomegaly and recurrent respiratory infections

UniProtKB/Swiss-Prot : 73 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:

(showing 4, show less)
# 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

Symptoms & Phenotypes for Immunodeficiency 32b

Human phenotypes related to Immunodeficiency 32b:

31 (showing 9, show less)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 recurrent respiratory infections 31 HP:0002205
3 failure to thrive 31 HP:0001508
4 fever 31 HP:0001945
5 immunodeficiency 31 HP:0002721
6 sinusitis 31 HP:0000246
7 recurrent infections 31 HP:0002719
8 pneumonia 31 HP:0002090
9 bronchiectasis 31 HP:0002110

Symptoms via clinical synopsis from OMIM:

56
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:

40
Monocytes, Nk Cells, Myeloid

Publications for Immunodeficiency 32b

Articles related to Immunodeficiency 32b:

(showing 6, show less)
# Title Authors PMID Year
1
Biallelic mutations in IRF8 impair human NK cell maturation and function. 56 6
27893462 2017
2
IRF8 mutations and human dendritic-cell immunodeficiency. 56 6
21524210 2011
3
A non-x-linked syndrome with susceptibility to severe Epstein-Barr virus infections. 6 56
6279813 1982
4
Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 6
25122610 2014
5
A familial syndrome of susceptibility to chronic active Epstein-Barr virus infection. 56
6318944 1984
6
"Chronic Epstein-Barr virus infection" syndrome and polymyalgia rheumatica. 61
2837573 1988

Variations for Immunodeficiency 32b

ClinVar genetic disease variations for Immunodeficiency 32b:

6 (showing 58, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IRF8 NM_002163.4(IRF8):c.671C>T (p.Pro224Leu)SNV Pathogenic 545494 rs774835569 16:85952092-85952092 16:85918486-85918486
2 IRF8 NM_002163.4(IRF8):c.322A>G (p.Lys108Glu)SNV Pathogenic 56842 rs397514710 16:85942743-85942743 16:85909137-85909137
3 IRF8 NM_002163.4(IRF8):c.602C>T (p.Ala201Val)SNV Conflicting interpretations of pathogenicity 475393 rs144424711 16:85952023-85952023 16:85918417-85918417
4 IRF8 NM_002163.4(IRF8):c.982T>G (p.Phe328Val)SNV Conflicting interpretations of pathogenicity 493195 rs202046728 16:85952403-85952403 16:85918797-85918797
5 IRF8 NM_002163.4(IRF8):c.1279dup (p.Ter427LeuextTer?)duplication Conflicting interpretations of pathogenicity 583095 rs1567479117 16:85954885-85954886 16:85921279-85921280
6 IRF8 NM_002163.4(IRF8):c.1131G>A (p.Leu377=)SNV Uncertain significance 571600 rs141548724 16:85954738-85954738 16:85921132-85921132
7 IRF8 NM_002163.4(IRF8):c.1184A>C (p.Glu395Ala)SNV Uncertain significance 579269 rs1567479042 16:85954791-85954791 16:85921185-85921185
8 IRF8 NM_002163.4(IRF8):c.1104G>A (p.Gln368=)SNV Uncertain significance 623891 rs377181003 16:85953830-85953830 16:85920224-85920224
9 IRF8 NM_002163.4(IRF8):c.184G>A (p.Val62Ile)SNV Uncertain significance 661293 16:85942605-85942605 16:85908999-85908999
10 IRF8 NM_002163.4(IRF8):c.508C>G (p.Arg170Gly)SNV Uncertain significance 645748 16:85946797-85946797 16:85913191-85913191
11 IRF8 NM_002163.4(IRF8):c.780C>T (p.Ser260=)SNV Uncertain significance 646032 16:85952201-85952201 16:85918595-85918595
12 IRF8 NM_002163.4(IRF8):c.1093A>G (p.Ile365Val)SNV Uncertain significance 665990 16:85953819-85953819 16:85920213-85920213
13 IRF8 NM_002163.4(IRF8):c.1189C>A (p.Pro397Thr)SNV Uncertain significance 643778 16:85954796-85954796 16:85921190-85921190
14 IRF8 NM_002163.4(IRF8):c.554-5T>GSNV Uncertain significance 642755 16:85948074-85948074 16:85914468-85914468
15 IRF8 NM_002163.4(IRF8):c.419G>A (p.Arg140His)SNV Uncertain significance 424036 rs372863612 16:85945236-85945236 16:85911630-85911630
16 IRF8 NM_002163.4(IRF8):c.406A>G (p.Met136Val)SNV Uncertain significance 542143 rs1555509293 16:85945223-85945223 16:85911617-85911617
17 IRF8 NM_002163.4(IRF8):c.859G>A (p.Val287Met)SNV Uncertain significance 542144 rs28368114 16:85952280-85952280 16:85918674-85918674
18 IRF8 NM_002163.4(IRF8):c.1030G>A (p.Gly344Ser)SNV Uncertain significance 542145 rs36085113 16:85953756-85953756 16:85920150-85920150
19 IRF8 NM_002163.4(IRF8):c.1167_1168TG[1] (p.Val390fs)short repeat Uncertain significance 542146 rs1555510153 16:85954774-85954775 16:85921168-85921169
20 IRF8 NM_002163.4(IRF8):c.414C>G (p.Cys138Trp)SNV Uncertain significance 542142 rs8052064 16:85945231-85945231 16:85911625-85911625
21 IRF8 NM_002163.4(IRF8):c.682C>T (p.Arg228Cys)SNV Uncertain significance 565526 rs148746145 16:85952103-85952103 16:85918497-85918497
22 IRF8 NM_002163.4(IRF8):c.1081C>T (p.Arg361Cys)SNV Uncertain significance 568546 rs771773479 16:85953807-85953807 16:85920201-85920201
23 IRF8 NM_002163.4(IRF8):c.601+6G>CSNV Uncertain significance 542153 rs369859766 16:85948132-85948132 16:85914526-85914526
24 IRF8 NM_002163.4(IRF8):c.45C>G (p.Ile15Met)SNV Uncertain significance 835895 16:85936666-85936666 16:85903060-85903060
25 IRF8 NM_002163.4(IRF8):c.239C>G (p.Thr80Arg)SNV Uncertain significance 835195 16:85942660-85942660 16:85909054-85909054
26 IRF8 NM_002163.4(IRF8):c.486C>A (p.Ser162Arg)SNV Uncertain significance 845722 16:85946775-85946775 16:85913169-85913169
27 IRF8 NM_002163.4(IRF8):c.590C>T (p.Ala197Val)SNV Uncertain significance 843627 16:85948115-85948115 16:85914509-85914509
28 IRF8 NM_002163.4(IRF8):c.621C>G (p.Ile207Met)SNV Uncertain significance 837390 16:85952042-85952042 16:85918436-85918436
29 IRF8 NM_002163.4(IRF8):c.713G>A (p.Gly238Asp)SNV Uncertain significance 855537 16:85952134-85952134 16:85918528-85918528
30 IRF8 NM_002163.4(IRF8):c.848G>C (p.Ser283Thr)SNV Uncertain significance 849669 16:85952269-85952269 16:85918663-85918663
31 IRF8 NM_002163.4(IRF8):c.1123C>T (p.Arg375Trp)SNV Uncertain significance 859277 16:85954730-85954730 16:85921124-85921124
32 IRF8 NM_002163.4(IRF8):c.1210C>T (p.Arg404Trp)SNV Uncertain significance 847064 16:85954817-85954817 16:85921211-85921211
33 IRF8 NM_002163.4(IRF8):c.601+5G>CSNV Uncertain significance 838340 16:85948131-85948131 16:85914525-85914525
34 IRF8 NM_002163.4(IRF8):c.1161C>T (p.Ala387=)SNV Likely benign 542155 rs183121597 16:85954768-85954768 16:85921162-85921162
35 IRF8 NM_002163.4(IRF8):c.1104+8T>GSNV Likely benign 542150 rs749015309 16:85953838-85953838 16:85920232-85920232
36 IRF8 NM_002163.4(IRF8):c.370G>A (p.Val124Met)SNV Likely benign 542154 rs138854374 16:85945187-85945187 16:85911581-85911581
37 IRF8 NM_002163.4(IRF8):c.1104+7dupduplication Likely benign 542151 rs749942363 16:85953836-85953837 16:85920230-85920231
38 IRF8 NM_002163.4(IRF8):c.724T>C (p.Tyr242His)SNV Likely benign 542152 rs142267779 16:85952145-85952145 16:85918539-85918539
39 IRF8 NM_002163.4(IRF8):c.1065G>A (p.Pro355=)SNV Likely benign 710806 16:85953791-85953791 16:85920185-85920185
40 IRF8 NM_002163.4(IRF8):c.1158A>T (p.Gly386=)SNV Likely benign 712814 16:85954765-85954765 16:85921159-85921159
41 IRF8 NM_002163.4(IRF8):c.126C>T (p.His42=)SNV Likely benign 723205 16:85936747-85936747 16:85903141-85903141
42 IRF8 NM_002163.4(IRF8):c.287C>T (p.Thr96Met)SNV Likely benign 733440 16:85942708-85942708 16:85909102-85909102
43 IRF8 NM_002163.4(IRF8):c.415G>A (p.Gly139Ser)SNV Likely benign 725422 16:85945232-85945232 16:85911626-85911626
44 IRF8 NM_002163.4(IRF8):c.537G>A (p.Ala179=)SNV Likely benign 722802 16:85946826-85946826 16:85913220-85913220
45 IRF8 NM_002163.4(IRF8):c.825G>A (p.Glu275=)SNV Likely benign 743656 16:85952246-85952246 16:85918640-85918640
46 IRF8 NM_002163.4(IRF8):c.1077C>T (p.Pro359=)SNV Likely benign 742737 16:85953803-85953803 16:85920197-85920197
47 IRF8 NM_002163.4(IRF8):c.988+10G>ASNV Likely benign 757443 16:85952419-85952419 16:85918813-85918813
48 IRF8 NM_002163.4(IRF8):c.864C>T (p.Phe288=)SNV Benign 710704 16:85952285-85952285 16:85918679-85918679
49 IRF8 NM_002163.4(IRF8):c.672C>T (p.Pro224=)SNV Benign 475392 rs57770209 16:85952093-85952093 16:85918487-85918487
50 IRF8 NM_002163.4(IRF8):c.300A>G (p.Gln100=)SNV Benign 475389 rs11545564 16:85942721-85942721 16:85909115-85909115
51 IRF8 NM_002163.4(IRF8):c.1275C>T (p.Thr425=)SNV Benign 475388 rs147057451 16:85954882-85954882 16:85921276-85921276
52 IRF8 NM_002163.4(IRF8):c.432C>T (p.Asp144=)SNV Benign 475391 rs16939945 16:85945249-85945249 16:85911643-85911643
53 IRF8 NM_002163.4(IRF8):c.1194G>A (p.Pro398=)SNV Benign 475386 rs2270503 16:85954801-85954801 16:85921195-85921195
54 IRF8 NM_002163.4(IRF8):c.1236A>G (p.Ser412=)SNV Benign 475387 rs16940012 16:85954843-85954843 16:85921237-85921237
55 IRF8 NM_002163.4(IRF8):c.387C>T (p.Cys129=)SNV Benign 475390 rs16939941 16:85945204-85945204 16:85911598-85911598
56 IRF8 NM_002163.4(IRF8):c.894C>T (p.Phe298=)SNV Benign 542149 rs61995933 16:85952315-85952315 16:85918709-85918709
57 IRF8 NM_002163.4(IRF8):c.495G>T (p.Pro165=)SNV Benign 542148 rs532341216 16:85946784-85946784 16:85913178-85913178
58 IRF8 NM_002163.4(IRF8):c.813C>T (p.Phe271=)SNV Benign 542147 rs147080359 16:85952234-85952234 16:85918628-85918628

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

73 (showing 1, show less)
# 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 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
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