IMD29
MCID: IMM181
MIFTS: 37

Immunodeficiency 29 (IMD29)

Categories: Blood diseases, Genetic diseases, Immune diseases, Rare diseases

Aliases & Classifications for Immunodeficiency 29

MalaCards integrated aliases for Immunodeficiency 29:

Name: Immunodeficiency 29 57 12 72 29 6 15 70
Immunodeficiency 29, Mycobacteriosis 57 12 72 29
Il12b Deficiency 57 12 72
Imd29 57 12 72
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 12 58
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 12 58
Msmd Due to Complete Interleukin 12b Deficiency 12 58
Msmd Due to Complete Il12b Deficiency 12 58
Immunodeficiency, Type 29, Mycobacteriosis 39

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon


HPO:

31
immunodeficiency 29:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111950
OMIM® 57 614890
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319558
SNOMED-CT via HPO 68 234532001 258211005
UMLS 70 C4013948

Summaries for Immunodeficiency 29

UniProtKB/Swiss-Prot : 72 Immunodeficiency 29: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis.

MalaCards based summary : Immunodeficiency 29, also known as immunodeficiency 29, mycobacteriosis, is related to immunodeficiency 30 and candidal paronychia. An important gene associated with Immunodeficiency 29 is IL12B (Interleukin 12B), and among its related pathways/superpathways are Th17 Differentiation Pathway and Th1 Differentiation Pathway. Related phenotypes are immunodeficiency and immune system

Disease Ontology : 12 A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has material basis in homozygous or compound heterozygous mutation in IL12B on chromosome 5q33.3.

OMIM® : 57 IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from leukocytes. IL12B-deficient patients generally present with bacillus Calmette-Guerin (BCG) disease after vaccination in childhood, and at least half also have Salmonella infection. Infections with Mycobacterium tuberculosis and environmental mycobacteria have also been reported in IL12B-deficient patients. The phenotype is relatively mild, and patients have a good prognosis (review by Al-Muhsen and Casanova, 2008). (614890) (Updated 05-Apr-2021)

Related Diseases for Immunodeficiency 29

Graphical network of the top 20 diseases related to Immunodeficiency 29:



Diseases related to Immunodeficiency 29

Symptoms & Phenotypes for Immunodeficiency 29

Human phenotypes related to Immunodeficiency 29:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor or absent il12 and gamma-interferon production

Clinical features from OMIM®:

614890 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Immunodeficiency 29:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 CARD9 IL12B IL12RB1 IL17RC LMO4 TRAF3IP2

Drugs & Therapeutics for Immunodeficiency 29

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 29

Genetic Tests for Immunodeficiency 29

Genetic tests related to Immunodeficiency 29:

# Genetic test Affiliating Genes
1 Immunodeficiency 29 29 IL12B
2 Immunodeficiency 29, Mycobacteriosis 29

Anatomical Context for Immunodeficiency 29

Publications for Immunodeficiency 29

Articles related to Immunodeficiency 29:

# Title Authors PMID Year
1
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds. 57 6
11753820 2002
2
Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection. 6 57
9854038 1998
3
A 1,100-year-old founder effect mutation in IL12B gene is responsible for Mendelian susceptibility to mycobacterial disease in Tunisian patients. 6
24127073 2014
4
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
5
Noncystic Fibrosis Bronchiectasis: Evaluation of an Extensive Diagnostic Protocol in Determining Pediatric Lung Disease Etiology. 61
32140286 2019
6
Primary Immunodeficiency Disorders Among North Indian Children. 61
31177511 2019

Variations for Immunodeficiency 29

ClinVar genetic disease variations for Immunodeficiency 29:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL12B NC_000005.10:g.(159317671_159317673)_(159322312_159322314)del Deletion Pathogenic 14053 GRCh37:
GRCh38: 5:159317671-159322314
2 IL12B NM_002187.2(IL12B):c.298_305del (p.Ser100fs) Deletion Pathogenic 183390 rs786201006 GRCh37: 5:158750121-158750128
GRCh38: 5:159323113-159323120
3 IL12B NM_002187.3(IL12B):c.30G>A (p.Trp10Ter) SNV Pathogenic 847134 GRCh37: 5:158753761-158753761
GRCh38: 5:159326753-159326753
4 IL12B NM_002187.3(IL12B):c.900C>A (p.Cys300Ter) SNV Pathogenic 970534 GRCh37: 5:158743780-158743780
GRCh38: 5:159316772-159316772
5 IL12B NM_002187.2(IL12B):c.259C>T (p.Gln87Ter) SNV Pathogenic 571326 rs1562113567 GRCh37: 5:158750167-158750167
GRCh38: 5:159323159-159323159
6 IL12B NM_002187.2(IL12B):c.320dup (p.Glu108fs) Duplication Conflicting interpretations of pathogenicity 14054 rs587776807 GRCh37: 5:158750105-158750106
GRCh38: 5:159323097-159323098
7 IL12B NM_002187.2(IL12B):c.660T>A (p.Tyr220Ter) SNV Conflicting interpretations of pathogenicity 632459 rs748215576 GRCh37: 5:158747351-158747351
GRCh38: 5:159320343-159320343
8 IL12B NM_002187.2(IL12B):c.283G>A (p.Glu95Lys) SNV Conflicting interpretations of pathogenicity 541814 rs56287471 GRCh37: 5:158750143-158750143
GRCh38: 5:159323135-159323135
9 IL12B NM_002187.2(IL12B):c.749G>A (p.Arg250Gln) SNV Conflicting interpretations of pathogenicity 541815 rs74644143 GRCh37: 5:158745850-158745850
GRCh38: 5:159318842-159318842
10 IL12B NM_002187.3(IL12B):c.901C>T (p.Arg301Cys) SNV Uncertain significance 999067 GRCh37: 5:158743779-158743779
GRCh38: 5:159316771-159316771
11 IL12B NM_002187.3(IL12B):c.61G>A (p.Val21Met) SNV Uncertain significance 999619 GRCh37: 5:158753730-158753730
GRCh38: 5:159326722-159326722
12 IL12B NM_002187.3(IL12B):c.382T>A (p.Phe128Ile) SNV Uncertain significance 1005516 GRCh37: 5:158749502-158749502
GRCh38: 5:159322494-159322494
13 IL12B NM_002187.3(IL12B):c.149G>A (p.Cys50Tyr) SNV Uncertain significance 1007074 GRCh37: 5:158750277-158750277
GRCh38: 5:159323269-159323269
14 IL12B NM_002187.3(IL12B):c.258C>T (p.Gly86=) SNV Uncertain significance 1011119 GRCh37: 5:158750168-158750168
GRCh38: 5:159323160-159323160
15 IL12B NM_002187.3(IL12B):c.674G>T (p.Ser225Ile) SNV Uncertain significance 851876 GRCh37: 5:158747337-158747337
GRCh38: 5:159320329-159320329
16 IL12B NM_002187.3(IL12B):c.483-6C>G SNV Uncertain significance 937914 GRCh37: 5:158747534-158747534
GRCh38: 5:159320526-159320526
17 IL12B NM_002187.3(IL12B):c.872C>T (p.Thr291Met) SNV Uncertain significance 904893 GRCh37: 5:158743808-158743808
GRCh38: 5:159316800-159316800
18 IL12B NM_002187.3(IL12B):c.393C>T (p.Cys131=) SNV Uncertain significance 1015255 GRCh37: 5:158749491-158749491
GRCh38: 5:159322483-159322483
19 IL12B NM_002187.3(IL12B):c.634G>C (p.Val212Leu) SNV Uncertain significance 1018823 GRCh37: 5:158747377-158747377
GRCh38: 5:159320369-159320369
20 IL12B NM_002187.3(IL12B):c.933G>C (p.Gln311His) SNV Uncertain significance 1021347 GRCh37: 5:158743747-158743747
GRCh38: 5:159316739-159316739
21 IL12B NM_002187.2(IL12B):c.301C>T (p.Leu101Phe) SNV Uncertain significance 663990 rs200722574 GRCh37: 5:158750125-158750125
GRCh38: 5:159323117-159323117
22 IL12B NM_002187.3(IL12B):c.922G>A (p.Val308Met) SNV Uncertain significance 834562 GRCh37: 5:158743758-158743758
GRCh38: 5:159316750-159316750
23 IL12B NM_002187.3(IL12B):c.200A>C (p.Glu67Ala) SNV Uncertain significance 954761 GRCh37: 5:158750226-158750226
GRCh38: 5:159323218-159323218
24 IL12B NM_002187.3(IL12B):c.938G>T (p.Arg313Leu) SNV Uncertain significance 960736 GRCh37: 5:158743742-158743742
GRCh38: 5:159316734-159316734
25 IL12B NM_002187.2(IL12B):c.536G>C (p.Arg179Thr) SNV Uncertain significance 352575 rs375159171 GRCh37: 5:158747475-158747475
GRCh38: 5:159320467-159320467
26 IL12B NM_002187.2(IL12B):c.738A>G (p.Leu246=) SNV Uncertain significance 352574 rs192540461 GRCh37: 5:158745861-158745861
GRCh38: 5:159318853-159318853
27 IL12B NM_002187.2(IL12B):c.300G>A (p.Ser100=) SNV Uncertain significance 352577 rs142998256 GRCh37: 5:158750126-158750126
GRCh38: 5:159323118-159323118
28 IL12B NM_002187.2(IL12B):c.960C>T (p.Ser320=) SNV Uncertain significance 352571 rs752964137 GRCh37: 5:158743720-158743720
GRCh38: 5:159316712-159316712
29 IL12B NM_002187.2(IL12B):c.*408C>T SNV Uncertain significance 352566 rs181215530 GRCh37: 5:158742701-158742701
GRCh38: 5:159315693-159315693
30 IL12B NM_002187.3(IL12B):c.855G>T (p.Lys285Asn) SNV Uncertain significance 933254 GRCh37: 5:158745744-158745744
GRCh38: 5:159318736-159318736
31 IL12B NM_002187.3(IL12B):c.937C>T (p.Arg313Cys) SNV Uncertain significance 940657 GRCh37: 5:158743743-158743743
GRCh38: 5:159316735-159316735
32 IL12B NM_002187.3(IL12B):c.87T>C (p.Asp29=) SNV Uncertain significance 952839 GRCh37: 5:158753704-158753704
GRCh38: 5:159326696-159326696
33 IL12B NM_002187.3(IL12B):c.511G>A (p.Gly171Arg) SNV Uncertain significance 956732 GRCh37: 5:158747500-158747500
GRCh38: 5:159320492-159320492
34 IL12B NM_002187.3(IL12B):c.890C>T (p.Thr297Met) SNV Uncertain significance 858293 GRCh37: 5:158743790-158743790
GRCh38: 5:159316782-159316782
35 IL12B NM_002187.2(IL12B):c.973G>A (p.Val325Met) SNV Uncertain significance 541807 rs56064925 GRCh37: 5:158743707-158743707
GRCh38: 5:159316699-159316699
36 IL12B NM_002187.2(IL12B):c.88+4A>G SNV Uncertain significance 568729 rs764341354 GRCh37: 5:158753699-158753699
GRCh38: 5:159326691-159326691
37 IL12B NM_002187.3(IL12B):c.823G>A (p.Val275Ile) SNV Uncertain significance 839869 GRCh37: 5:158745776-158745776
GRCh38: 5:159318768-159318768
38 IL12B NM_002187.2(IL12B):c.*780G>A SNV Uncertain significance 352561 rs549706242 GRCh37: 5:158742329-158742329
GRCh38: 5:159315321-159315321
39 IL12B NM_002187.2(IL12B):c.-29A>G SNV Uncertain significance 352578 rs886060355 GRCh37: 5:158757468-158757468
GRCh38: 5:159330460-159330460
40 IL12B NM_002187.2(IL12B):c.*230C>T SNV Uncertain significance 352567 rs56396672 GRCh37: 5:158742879-158742879
GRCh38: 5:159315871-159315871
41 IL12B NM_002187.2(IL12B):c.*497C>T SNV Uncertain significance 352564 rs528573168 GRCh37: 5:158742612-158742612
GRCh38: 5:159315604-159315604
42 IL12B NM_002187.2(IL12B):c.*1016T>A SNV Uncertain significance 352556 rs547204212 GRCh37: 5:158742093-158742093
GRCh38: 5:159315085-159315085
43 IL12B NM_002187.2(IL12B):c.*1232A>G SNV Uncertain significance 352553 rs886060352 GRCh37: 5:158741877-158741877
GRCh38: 5:159314869-159314869
44 IL12B NM_002187.2(IL12B):c.*486A>G SNV Uncertain significance 352565 rs868227011 GRCh37: 5:158742623-158742623
GRCh38: 5:159315615-159315615
45 IL12B NM_002187.2(IL12B):c.*746C>T SNV Uncertain significance 352562 rs41292468 GRCh37: 5:158742363-158742363
GRCh38: 5:159315355-159315355
46 IL12B NM_002187.3(IL12B):c.902G>A (p.Arg301His) SNV Uncertain significance 904117 GRCh37: 5:158743778-158743778
GRCh38: 5:159316770-159316770
47 IL12B NM_002187.3(IL12B):c.*1312T>A SNV Uncertain significance 904827 GRCh37: 5:158741797-158741797
GRCh38: 5:159314789-159314789
48 IL12B NM_002187.3(IL12B):c.*1069G>T SNV Uncertain significance 904828 GRCh37: 5:158742040-158742040
GRCh38: 5:159315032-159315032
49 IL12B NM_002187.3(IL12B):c.822C>T (p.Cys274=) SNV Uncertain significance 904894 GRCh37: 5:158745777-158745777
GRCh38: 5:159318769-159318769
50 IL12B NM_002187.3(IL12B):c.*1036C>T SNV Uncertain significance 906440 GRCh37: 5:158742073-158742073
GRCh38: 5:159315065-159315065

Expression for Immunodeficiency 29

Search GEO for disease gene expression data for Immunodeficiency 29.

Pathways for Immunodeficiency 29

Pathways related to Immunodeficiency 29 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.22 IL12RB1 IL12B
2
Show member pathways
11.04 IL12RB1 IL12B
3
Show member pathways
10.89 TRAF3IP2 IL17RC IL12RB1 IL12B
4
Show member pathways
10.42 IL12RB1 IL12B

GO Terms for Immunodeficiency 29

Biological processes related to Immunodeficiency 29 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.65 IL17RC IL12RB1 IL12B
2 cellular response to interferon-gamma GO:0071346 9.55 IL12RB1 IL12B
3 positive regulation of interleukin-6 production GO:0032755 9.54 IL17RC CARD9
4 positive regulation of tumor necrosis factor production GO:0032760 9.52 IL12B CARD9
5 positive regulation of interferon-gamma production GO:0032729 9.51 IL12RB1 IL12B
6 interleukin-12-mediated signaling pathway GO:0035722 9.49 IL12RB1 IL12B
7 positive regulation of activated T cell proliferation GO:0042104 9.46 IL12RB1 IL12B
8 positive regulation of T cell mediated cytotoxicity GO:0001916 9.43 IL12RB1 IL12B
9 positive regulation of T-helper 1 type immune response GO:0002827 9.4 IL12RB1 IL12B
10 interleukin-17-mediated signaling pathway GO:0097400 9.37 TRAF3IP2 IL17RC
11 positive regulation of memory T cell differentiation GO:0043382 9.32 IL12RB1 IL12B
12 interleukin-23-mediated signaling pathway GO:0038155 9.26 IL12RB1 IL12B
13 positive regulation of T-helper 17 type immune response GO:2000318 9.16 IL12RB1 IL12B
14 positive regulation of T-helper 17 cell lineage commitment GO:2000330 8.96 IL12RB1 IL12B
15 positive regulation of defense response to virus by host GO:0002230 8.8 TRAF3IP2 IL12RB1 IL12B

Molecular functions related to Immunodeficiency 29 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine receptor activity GO:0004896 9.16 IL12RB1 IL12B
2 cytokine binding GO:0019955 8.96 IL12RB1 IL12B
3 interleukin-12 receptor binding GO:0005143 8.62 IL12RB1 IL12B

Sources for Immunodeficiency 29

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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