IMD69
MCID: IMM226
MIFTS: 20

Immunodeficiency 69 (IMD69)

Categories: Blood diseases, Genetic diseases, Immune diseases, Liver diseases

Aliases & Classifications for Immunodeficiency 69

MalaCards integrated aliases for Immunodeficiency 69:

Name: Immunodeficiency 69 57 12 73 6
Imd69 57 12 73
Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive 57 73
Ifng Deficiency, Autosomal Recessive 57 73
Immunodeficiency 69, Mycobacteriosis 57

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
onset triggered by bcg vaccination
patients do not develop severe infections to other viral or bacterial organisms
one consanguineous lebanese family has been reported (last curated july 2020)


HPO:

31
immunodeficiency 69:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency 69

UniProtKB/Swiss-Prot : 73 Immunodeficiency 69: 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. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection.

MalaCards based summary : Immunodeficiency 69, is also known as imd69. An important gene associated with Immunodeficiency 69 is IFNG (Interferon Gamma). Affiliated tissues include nk cells and liver, and related phenotypes are fever and anemia

Disease Ontology : 12 A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has material basis in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15.

OMIM® : 57 Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020). IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950). (618963) (Updated 05-Mar-2021)

Related Diseases for Immunodeficiency 69

Symptoms & Phenotypes for Immunodeficiency 69

Human phenotypes related to Immunodeficiency 69:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 fever 31 very rare (1%) HP:0001945
2 anemia 31 very rare (1%) HP:0001903
3 hepatosplenomegaly 31 very rare (1%) HP:0001433
4 leukocytosis 31 very rare (1%) HP:0001974
5 bcgosis 31 very rare (1%) HP:0020087
6 failure to thrive 31 HP:0001508
7 splenomegaly 31 HP:0001744
8 skin rash 31 HP:0000988
9 diarrhea 31 HP:0002014
10 pancytopenia 31 HP:0001876
11 thrombocytosis 31 HP:0001894
12 increased circulating ferritin concentration 31 HP:0003281

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Abdomen Spleen:
splenomegaly

Metabolic Features:
fever

Laboratory Abnormalities:
elevated liver enzymes

Immunology:
susceptibility to disseminated mycobacterial infection
leukocytosis during infection
t and nk cells show impaired production of gamma-interferon when stimulated

Abdomen Liver:
hepatomegaly

Hematology:
anemia
thrombocytosis

Skin Nails Hair Skin:
maculopapular rash (1 patient)

Clinical features from OMIM®:

618963 (Updated 05-Mar-2021)

Drugs & Therapeutics for Immunodeficiency 69

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 69

Genetic Tests for Immunodeficiency 69

Anatomical Context for Immunodeficiency 69

MalaCards organs/tissues related to Immunodeficiency 69:

40
Nk Cells, Liver

Publications for Immunodeficiency 69

Articles related to Immunodeficiency 69:

# Title Authors PMID Year
1
Inherited human IFN-γ deficiency underlies mycobacterial disease. 57 6
32163377 2020
2
Analysis of scoring systems for primary immunodeficiency diagnosis in adult immunology clinics. 61
32990325 2021

Variations for Immunodeficiency 69

ClinVar genetic disease variations for Immunodeficiency 69:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IFNG NM_000619.3(IFNG):c.354_357del (p.Thr119fs) Deletion Pathogenic 974678 12:68551702-68551705 12:68157922-68157925

Expression for Immunodeficiency 69

Search GEO for disease gene expression data for Immunodeficiency 69.

Pathways for Immunodeficiency 69

GO Terms for Immunodeficiency 69

Sources for Immunodeficiency 69

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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