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POMP-related autoinflammation and immune dysregulation disease
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POMP-related autoinflammation and immune dysregulation disease

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Contributors: Negar Esfandiari BHSc, Keith Morley MD, Susan Burgin MD
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Synopsis

POMP-related autoinflammation and immune dysregulation disease
POMP-related autoinflammation and immune dysregulation (PRAID) is a disease that manifests in childhood with immune deficiency, autoinflammation, and neutrophilic dermatosis. The disease is caused by heterozygous de novo mutations in the proteasome maturation protein (POMP). POMP is a chaperone protein that aids in the formation of the proteasome unit in cells, which is essential for the breakdown of ubiquitinated proteins; thus, this mutation disrupts the normal functioning of cell proteosomes.

POMP expression is particularly important for the function of immune cells because without protein degradation, antigens cannot be presented on major histocompatibility complex (MHC) class I receptors.

Individuals with PRAID are susceptible to a multitude of viral, bacterial, and fungal infections, including opportunistic organisms such as Pneumocystis jirovecii and mycobacteria, as a result of dysregulated immune functioning.

Codes

ICD10CM:
M04.9 – Autoinflammatory syndrome, unspecified

SNOMEDCT:
724834006 – Neutrophilic dermatosis

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Chronic neutrophilic dermatosis, lipodystrophy, and elevated temperature (CANDLE) syndrome
  • Severe combined immunodeficiency disease (SCID)
  • Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome
  • Sweet syndrome
  • Nakajo-Nishimura syndrome

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:08/14/2022
Last Updated:08/15/2022
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POMP-related autoinflammation and immune dysregulation disease
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A medical illustration showing key findings of POMP-related autoinflammation and immune dysregulation disease
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