autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
diseaseOn this page
Also known as autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiencyautosomal dominant MSMD due to partial IFNgammaR2 deficiencyautosomal dominant MSMD due to partial interferon gamma receptor 2 deficiencyIFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Summary
autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency (MONDO:0017903) is a disease with 1 cohort gene.
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Cohort genes: 1
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 2 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| Mondo ID | MONDO:0017903 |
| Orphanet | 319589 |
| UMLS | C4510875 |
| MedGen | 1371829 |
| GARD | 0021425 |
| Is cancer (heuristic) | no |
Also known as: autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency caused by mutation in IFNGR2 · autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency · autosomal dominant MSMD due to partial IFNgammaR2 deficiency · autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency · IFNGR2 autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Data availability: 1 GenCC gene-disease record.
Disease family
Classification path: disease susceptibility › inherited disease susceptibility › inherited susceptibility to mycobacterial diseases › autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Related subtypes (13): immunodeficiency 27A, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency, autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency, autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency, X-linked Mendelian susceptibility to mycobacterial diseases, Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency, Mendelian susceptibility to mycobacterial diseases due to a complete deficiency, Mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 5 · Orphanet: 3 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
GenCC gene–disease validity (cohort genes)
the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.
| Gene | Classification | Inheritance | Disease | Records |
|---|---|---|---|---|
| IFNGR2 | Supportive | Autosomal recessive | autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency | 5 |
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| IFNGR2 | Orphanet:319547 | Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency |
| IFNGR2 | Orphanet:319574 | Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
| IFNGR2 | Orphanet:319589 | Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| IFNGR2 | HGNC:5440 | ENSG00000159128 | P38484 | Interferon gamma receptor 2 | gencc |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| IFNGR2 | Interferon gamma receptor 2 | Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG). |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 29.2× | 0.034 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| IFNGR2 | Antibody/Immunoglobulin | yes | FN3_dom, Ig-like_fold, Interferon/interleukin_rcp_dom |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| blood | 1 |
| leukocyte | 1 |
| monocyte | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| IFNGR2 | 144 | ubiquitous | marker | monocyte, leukocyte, blood |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| IFNGR2 | 1,794 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| IFNGR2 | P38484 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 11. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| IFNG signaling activates MAPKs | 1 | 1427.5× | 0.007 | IFNGR2 |
| Regulation of IFNG signaling | 1 | 815.7× | 0.007 | IFNGR2 |
| Interferon gamma signaling | 1 | 125.5× | 0.019 | IFNGR2 |
| Interferon Signaling | 1 | 120.2× | 0.019 | IFNGR2 |
| Potential therapeutics for SARS | 1 | 114.2× | 0.019 | IFNGR2 |
| SARS-CoV Infections | 1 | 55.4× | 0.033 | IFNGR2 |
| Cytokine Signaling in Immune system | 1 | 40.8× | 0.039 | IFNGR2 |
| Viral Infection Pathways | 1 | 30.8× | 0.045 | IFNGR2 |
| Infectious disease | 1 | 24.8× | 0.049 | IFNGR2 |
| Disease | 1 | 13.1× | 0.077 | IFNGR2 |
| Immune System | 1 | 13.0× | 0.077 | IFNGR2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| type III interferon-mediated signaling pathway | 1 | 1532.0× | 0.002 | IFNGR2 |
| positive regulation of glutamate receptor signaling pathway | 1 | 1532.0× | 0.002 | IFNGR2 |
| type II interferon-mediated signaling pathway | 1 | 1203.7× | 0.002 | IFNGR2 |
| microglial cell activation | 1 | 624.1× | 0.004 | IFNGR2 |
| cellular response to virus | 1 | 200.6× | 0.009 | IFNGR2 |
| response to virus | 1 | 144.0× | 0.010 | IFNGR2 |
| cytokine-mediated signaling pathway | 1 | 130.6× | 0.010 | IFNGR2 |
| defense response to virus | 1 | 69.3× | 0.016 | IFNGR2 |
| cell surface receptor signaling pathway | 1 | 64.1× | 0.016 | IFNGR2 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| IFNGR2 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 0.
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | IFNGR2 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| IFNGR2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: IFNGR2