IMD88
MCID: IMM258
MIFTS: 17

Immunodeficiency 88 (IMD88)

Categories: Genetic diseases, Immune diseases
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Aliases & Classifications for Immunodeficiency 88

MalaCards integrated aliases for Immunodeficiency 88:

Name: Immunodeficiency 88 57 73 5
Immunodeficiency 88, Mycobacteriosis, Autosomal Recessive 57 73
Imd88 57 73

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset after bcg vaccination in infancy
one patient has been reported (last curated november 2021)


Classifications:



External Ids:

OMIM® 57 619630
OMIM Phenotypic Series 57 PS300755
MeSH 43 D007153
SNOMED-CT via HPO 69 195967001 991000119106

Summaries for Immunodeficiency 88

OMIM®: 57 Immunodeficiency-88 (IMD88) is an autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG; 147570). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines (summary by Yang et al., 2020 and Yang et al., 2021). (619630) (Updated 08-Dec-2022)

MalaCards based summary: Immunodeficiency 88, is also known as immunodeficiency 88, mycobacteriosis, autosomal recessive. An important gene associated with Immunodeficiency 88 is TBX21 (T-Box Transcription Factor 21). Affiliated tissues include nk cells, and related phenotypes are asthma and eosinophilia

UniProtKB/Swiss-Prot: 73 An autosomal recessive disorder characterized by the development of disseminated mycobacterial disease following vaccination with BCG. Clinical features included fever, lymphadenopathy, and cutaneous eruption.

Related Diseases for Immunodeficiency 88

Symptoms & Phenotypes for Immunodeficiency 88

Human phenotypes related to Immunodeficiency 88:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 asthma 30 Very rare (1%) HP:0002099
2 eosinophilia 30 Very rare (1%) HP:0001880
3 bcgosis 30 Very rare (1%) HP:0020087

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Metabolic Features:
fever

Immunology:
eosinophilia
lymphadenopathy
mycobacteriosis
disseminated mycobacterial infection following bcg vaccination
impaired development of nk cells and other innate immune cells
more
Respiratory Airways:
cough
wheezing
breathing difficulties
upper airway inflammation, chronic

Skin Nails Hair Skin:
cutaneous eruption

Clinical features from OMIM®:

619630 (Updated 08-Dec-2022)

Drugs & Therapeutics for Immunodeficiency 88

Search Clinical Trials, NIH Clinical Center for Immunodeficiency 88

Genetic Tests for Immunodeficiency 88

Anatomical Context for Immunodeficiency 88

Organs/tissues related to Immunodeficiency 88:

MalaCards : Nk Cells

Publications for Immunodeficiency 88

Articles related to Immunodeficiency 88:

# Title Authors PMID Year
1
Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria. 57 5
33296702 2020
2
High Th2 cytokine levels and upper airway inflammation in human inherited T-bet deficiency. 57
34160550 2021
3
Increased susceptibility of mice lacking T-bet to infection with Mycobacterium tuberculosis correlates with increased IL-10 and decreased IFN-gamma production. 57
16177104 2005

Variations for Immunodeficiency 88

ClinVar genetic disease variations for Immunodeficiency 88:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TBX21 NM_013351.2(TBX21):c.466_471delinsAGTTTA (p.Glu156_Met157delinsSerLeu) INDEL Pathogenic
1326844 GRCh37: 17:45811286-45811291
GRCh38: 17:47733920-47733925
2 TBX21 NM_013351.2(TBX21):c.390A>G (p.Gly130=) SNV Benign
1334938 GRCh37: 17:45811210-45811210
GRCh38: 17:47733844-47733844

Expression for Immunodeficiency 88

Search GEO for disease gene expression data for Immunodeficiency 88.

Pathways for Immunodeficiency 88

GO Terms for Immunodeficiency 88

Sources for Immunodeficiency 88

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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