Pyogenic bacterial infections due to MyD88 deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MYD88D PYOGENIC BACTERIAL INFECTIONS, RECURRENT, DUE TO MYD88 DEFICIENCY RECURRENT PYOGENIC BACTERIAL INFECTIONS DUE TO MYD88 DEFICIENCY MyD88 deficiency |
| Number of Symptoms | 4 |
| OrphanetNr: | 183713 |
| OMIM Id: |
612260
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| ICD-10: |
D84.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic susceptibility to infections due to particular pathogens
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0000246) | Sinusitis | Frequent [Orphanet] | 73 / 7739 | |||
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(HPO:0200042) | Skin ulcer | Frequent [Orphanet] | 138 / 7739 | |||
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(HPO:0001945) | Fever | Occasional [Orphanet] | 218 / 7739 | |||
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(HPO:0010978) | Abnormality of immune system physiology | Very frequent [Orphanet] | 148 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Von Bernuth et al. (2008) reported 9 children with autosomal recessive MYD88 deficiency from 2 consanguineous and 3 nonconsanguineous kindreds from France, Turkey, Portugal, and Spain. The children suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive ... |
| Molecular genetics OMIM |
Von Bernuth et al. (2008) identified 3 different mutations in the MYD88 gene in the children they reported with MYD88 deficiency. Four children from 3 kindreds were homozygous for in-frame deletion of glu52 (E52del; 602170.0001). Two sibs were ... |