MCID: IMM181
MIFTS: 18

Immunodeficiency 29

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

Aliases & Classifications for Immunodeficiency 29

MalaCards integrated aliases for Immunodeficiency 29:

Name: Immunodeficiency 29 57 75 29 6 73
Immunodeficiency 29, Mycobacteriosis 57 75
Il12b Deficiency 57 75
Imd29 57 75
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 59
Msmd Due to Complete Interleukin 12b Deficiency 59
Immunodeficiency, Type 29, Mycobacteriosis 40
Msmd Due to Complete Il12b Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
immunodeficiency 29:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614890
Orphanet 59 ORPHA319558
ICD10 via Orphanet 34 D84.8
SNOMED-CT via HPO 69 258211005 234532001
UMLS 73 C4013948

Summaries for Immunodeficiency 29

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Immunodeficiency 29 is IL12B (Interleukin 12B). Related phenotype is immunodeficiency.

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)

Related Diseases for Immunodeficiency 29

Diseases related to Immunodeficiency 29 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 30 10.9

Symptoms & Phenotypes for Immunodeficiency 29

Symptoms via clinical synopsis from OMIM:

57
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to salmonella infections
poor or absent il12 and gamma-interferon production


Clinical features from OMIM:

614890

Human phenotypes related to Immunodeficiency 29:

32
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721

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

Anatomical Context for Immunodeficiency 29

Publications for Immunodeficiency 29

Variations for Immunodeficiency 29

ClinVar genetic disease variations for Immunodeficiency 29:

6
(show all 33)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL12B NC_000005.10 deletion Pathogenic GRCh38 Chromosome 5, 159317671: 159322314
2 IL12B NM_002187.2(IL12B): c.320dupA (p.Glu108Glyfs) duplication Pathogenic rs587776807 GRCh38 Chromosome 5, 159323098: 159323098
3 IL12B NM_002187.2(IL12B): c.320dupA (p.Glu108Glyfs) duplication Pathogenic rs587776807 GRCh37 Chromosome 5, 158750106: 158750106
4 IL12B NM_002187.2(IL12B): c.298_305delTCGCTCCT (p.Ser100Alafs) deletion Pathogenic rs786201006 GRCh38 Chromosome 5, 159323113: 159323120
5 IL12B NM_002187.2(IL12B): c.298_305delTCGCTCCT (p.Ser100Alafs) deletion Pathogenic rs786201006 GRCh37 Chromosome 5, 158750121: 158750128
6 IL12B NM_002187.2(IL12B): c.483-8G> C single nucleotide variant Benign/Likely benign rs3213099 GRCh37 Chromosome 5, 158747536: 158747536
7 IL12B NM_002187.2(IL12B): c.483-8G> C single nucleotide variant Benign/Likely benign rs3213099 GRCh38 Chromosome 5, 159320528: 159320528
8 IL12B NM_002187.2(IL12B): c.892G> T (p.Val298Phe) single nucleotide variant Benign/Likely benign rs3213119 GRCh37 Chromosome 5, 158743788: 158743788
9 IL12B NM_002187.2(IL12B): c.892G> T (p.Val298Phe) single nucleotide variant Benign/Likely benign rs3213119 GRCh38 Chromosome 5, 159316780: 159316780
10 IL12B NM_002187.2(IL12B): c.506C> T (p.Thr169Met) single nucleotide variant Likely benign rs565345523 GRCh38 Chromosome 5, 159320497: 159320497
11 IL12B NM_002187.2(IL12B): c.506C> T (p.Thr169Met) single nucleotide variant Likely benign rs565345523 GRCh37 Chromosome 5, 158747505: 158747505
12 IL12B NM_002187.2(IL12B): c.97G> A (p.Val33Ile) single nucleotide variant Benign rs3213096 GRCh37 Chromosome 5, 158750329: 158750329
13 IL12B NM_002187.2(IL12B): c.97G> A (p.Val33Ile) single nucleotide variant Benign rs3213096 GRCh38 Chromosome 5, 159323321: 159323321
14 IL12B NM_002187.2(IL12B): c.749G> A (p.Arg250Gln) single nucleotide variant Likely benign rs74644143 GRCh37 Chromosome 5, 158745850: 158745850
15 IL12B NM_002187.2(IL12B): c.749G> A (p.Arg250Gln) single nucleotide variant Likely benign rs74644143 GRCh38 Chromosome 5, 159318842: 159318842
16 IL12B NM_002187.2(IL12B): c.620C> T (p.Pro207Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 158747391: 158747391
17 IL12B NM_002187.2(IL12B): c.620C> T (p.Pro207Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 159320383: 159320383
18 IL12B NM_002187.2(IL12B): c.544G> A (p.Gly182Arg) single nucleotide variant Likely benign rs10045130 GRCh37 Chromosome 5, 158747467: 158747467
19 IL12B NM_002187.2(IL12B): c.544G> A (p.Gly182Arg) single nucleotide variant Likely benign rs10045130 GRCh38 Chromosome 5, 159320459: 159320459
20 IL12B NM_002187.2(IL12B): c.973G> A (p.Val325Met) single nucleotide variant Uncertain significance rs56064925 GRCh37 Chromosome 5, 158743707: 158743707
21 IL12B NM_002187.2(IL12B): c.973G> A (p.Val325Met) single nucleotide variant Uncertain significance rs56064925 GRCh38 Chromosome 5, 159316699: 159316699
22 IL12B NM_002187.2(IL12B): c.612G> C (p.Glu204Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 158747399: 158747399
23 IL12B NM_002187.2(IL12B): c.612G> C (p.Glu204Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 159320391: 159320391
24 IL12B NM_002187.2(IL12B): c.283G> A (p.Glu95Lys) single nucleotide variant Likely benign rs56287471 GRCh37 Chromosome 5, 158750143: 158750143
25 IL12B NM_002187.2(IL12B): c.283G> A (p.Glu95Lys) single nucleotide variant Likely benign rs56287471 GRCh38 Chromosome 5, 159323135: 159323135
26 IL12B NM_002187.2(IL12B): c.247G> A (p.Gly83Arg) single nucleotide variant Uncertain significance rs756537897 GRCh37 Chromosome 5, 158750179: 158750179
27 IL12B NM_002187.2(IL12B): c.247G> A (p.Gly83Arg) single nucleotide variant Uncertain significance rs756537897 GRCh38 Chromosome 5, 159323171: 159323171
28 IL12B NM_002187.2(IL12B): c.227C> T (p.Thr76Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 158750199: 158750199
29 IL12B NM_002187.2(IL12B): c.227C> T (p.Thr76Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 159323191: 159323191
30 IL12B NM_002187.2(IL12B): c.925C> A (p.Arg309=) single nucleotide variant Uncertain significance rs771683283 GRCh38 Chromosome 5, 159316747: 159316747
31 IL12B NM_002187.2(IL12B): c.925C> A (p.Arg309=) single nucleotide variant Uncertain significance rs771683283 GRCh37 Chromosome 5, 158743755: 158743755
32 IL12B NM_002187.2(IL12B): c.327T> C (p.Asp109=) single nucleotide variant Likely benign rs745557945 GRCh37 Chromosome 5, 158750099: 158750099
33 IL12B NM_002187.2(IL12B): c.327T> C (p.Asp109=) single nucleotide variant Likely benign rs745557945 GRCh38 Chromosome 5, 159323091: 159323091

Expression for Immunodeficiency 29

Search GEO for disease gene expression data for Immunodeficiency 29.

Pathways for Immunodeficiency 29

GO Terms for Immunodeficiency 29

Sources for Immunodeficiency 29

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
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