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50 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYD88
MYD88 innate immune signal transduction adaptor
Chromosome 3 · 3p22.2
NCBI Gene: 4615Ensembl: ENSG00000172936HGNC: HGNC:7562UniProt: A0A0A0MSI9
624PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
ApoptosisHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
TIR domain bindingsignaling adaptor activitypositive regulation of type I interferon productionpositive regulation of interleukin-1 beta productionpyogenic bacterial infections due to MyD88 deficiencychronic lymphocytic leukemiadiffuse large B-cell lymphomalymphoid leukemia
✦AI Summary

MYD88 is a critical adapter protein that mediates innate immune signaling downstream of Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs) 1. Upon activation, MYD88 recruits IRAK and TRAF6 proteins to initiate signaling cascades leading to NF-κB activation and production of inflammatory cytokines including IL-1β and IL-8, contributing to host defense against pathogens 1. MYD88 is essential for protective immunity against pyogenic bacteria; however, humans with complete MYD88 deficiency show selective susceptibility to specific bacterial pathogens while maintaining normal resistance to most other microbes, indicating functional redundancy in many immune contexts 2. Clinically, MYD88 mutations are highly relevant to hematologic malignancies. The L265P mutation in MYD88 is detected in >90% of Waldenström macroglobulinemia (WM) patients and drives disease pathogenesis by activating BTK signaling 3, 4. MYD88 mutation status serves as a prognostic marker: mutated MYD88 with wild-type CXCR4 predicts better response to Bruton tyrosine kinase inhibitors, informing treatment selection 5. The MYD88 L265P mutation also represents a diagnostic biomarker for primary CNS lymphoma, detectable in blood and cerebrospinal fluid with high sensitivity and specificity 6. Autosomal recessive MYD88 deficiency causes immunodeficiency 68, characterized by recurrent pyogenic infections.

Sources cited
1
MYD88 is essential for TLR signaling and induction of inflammatory cytokines
PMID: 14751757
2
MyD88 deficiency in humans causes susceptibility to pyogenic bacterial infections but normal resistance to most other pathogens
PMID: 18669862
3
L265P MYD88 mutation is detectable in >90% of Waldenström macroglobulinemia patients
PMID: 40095219
4
MYD88 mutation is detected in almost every WM patient and affects therapeutic strategy with BTK inhibitors
PMID: 34911327
5
MYD88 mutation status affects response to BTK inhibitors and progression-free survival in WM patients
PMID: 38211337
6
MYD88 L265Pro mutation is a reliable diagnostic biomarker for primary CNS lymphoma in peripheral blood and CSF
PMID: 38937027
Disease Associationsⓘ22
pyogenic bacterial infections due to MyD88 deficiencyOpen Targets
0.73Strong
chronic lymphocytic leukemiaOpen Targets
0.69Moderate
diffuse large B-cell lymphomaOpen Targets
0.65Moderate
lymphoid leukemiaOpen Targets
0.52Moderate
inborn error of immunityOpen Targets
0.50Moderate
Waldenstrom macroglobulinemiaOpen Targets
0.47Moderate
Central Nervous System LymphomaOpen Targets
0.39Weak
Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiencyOpen Targets
0.38Weak
B-cell non-Hodgkins lymphomaOpen Targets
0.38Weak
lymphoplasmacytic lymphomaOpen Targets
0.38Weak
non-Hodgkins lymphomaOpen Targets
0.37Weak
Breast Diffuse Large B-Cell LymphomaOpen Targets
0.37Weak
diffuse large B-cell lymphoma of the central nervous systemOpen Targets
0.37Weak
Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg TypeOpen Targets
0.37Weak
benign monoclonal gammopathyOpen Targets
0.37Weak
macroglobulinemia, Waldenstrom, 1Open Targets
0.35Weak
lymphomaOpen Targets
0.33Weak
Follicular CystOpen Targets
0.33Weak
hepatocellular carcinomaOpen Targets
0.31Weak
oral squamous cell carcinomaOpen Targets
0.30Weak
Immunodeficiency 68UniProt
Macroglobulinemia, Waldenstrom, 1UniProt
Pathogenic Variants5
NM_002468.5(MYD88):c.154GAG[1] (p.Glu53del)Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency|not provided
★★☆☆2025→ Residue 53
NM_002468.5(MYD88):c.256_257del (p.Val86fs)Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency
★☆☆☆2023→ Residue 86
NM_002468.5(MYD88):c.463+1G>ALikely pathogenic
Pyogenic bacterial infections due to MyD88 deficiency
★☆☆☆2022
NM_002468.5(MYD88):c.157G>T (p.Glu53Ter)Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency
★☆☆☆2020→ Residue 53
NM_002468.5(MYD88):c.278T>C (p.Leu93Pro)Pathogenic
Pyogenic bacterial infections due to MyD88 deficiency
☆☆☆☆2008→ Residue 93
View on ClinVar ↗
Related Genes
HSPA1BProtein interaction100%TAB3Protein interaction100%IKBKGProtein interaction100%TAB2Protein interaction100%IL33Protein interaction100%TNFProtein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
92%
Liver
89%
Ovary
28%
Heart
18%
Brain
12%
Gene Interaction Network
Click a node to explore
MYD88HSPA1BTAB3IKBKGTAB2IL33TNF
PROTEIN STRUCTURE
Preparing viewer…
PDB4EO7 · 1.45 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.72LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.47 [0.31–0.72]
RankingsWhere MYD88 stands among ~20K protein-coding genes
  • #368of 20,598
    Most Researched624 · top 5%
  • #3,459of 5,498
    Most Pathogenic Variants5
  • #5,563of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedMYD88
Sources retrieved50 papers
Response time—
📄 Sources
50▼
1
TLR signaling pathways.
PMID: 14751757
Semin Immunol · 2004
1.00
2
Waldenström Macroglobulinemia: 2025 Update on Diagnosis, Risk Stratification, and Management.
PMID: 40095219
Am J Hematol · 2025
0.90
3
Toll-like receptors.
PMID: 12524386
Annu Rev Immunol · 2003
0.82
4
MyD88 and Its Inhibitors in Cancer: Prospects and Challenges.
PMID: 38785969
Biomolecules · 2024
0.80
5
Toll-like receptor signalling.
PMID: 15229469
Nat Rev Immunol · 2004
0.80