Autoinflammation, Panniculitis, And Dermatosis Syndrome; Aipds

Description

Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) is an autosomal recessive autoinflammatory disease characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy. Additional features may include diarrhea, increased serum C-reactive protein, leukocytosis, and neutrophilia in the absence of any infection. Patients exhibit no overt primary immunodeficiency (Damgaard et al., 2016 and Zhou et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Autoinflammation, Panniculitis, And Dermatosis Syndrome; Aipds

  • Failure to thrive
  • Pain
  • Fever
  • Diarrhea
  • Erythema
  • Arthralgia
  • Myalgia
  • Skin rash
  • Lymphadenopathy
  • Scarring
And another 8 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Autoinflammation, Panniculitis, And Dermatosis Syndrome; Aipds Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

Alternate names

Autoinflammation, Panniculitis, And Dermatosis Syndrome; Aipds Is also known as otulin-related autoinflammatory syndrome;oras, otulipenia;oras; otulin deficiency; otulin-related autoinflammatory syndrome; otulipenia.


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