| Disease name |
Characteristic / Associated features |
Category |
inheritance type |
| Hyper IgD Syndrome and periodic fever |
Recurrent fever of unknown origin; leukocytosis; elevated polyclonal IgD; recurrent arthritis; splenomegaly; lymphadenopathy; abdominal pain; rash; headache; serositis; arthralgia; diarrhea; vomiting; elevated IgA; mildly elevated urinary mevalonic acid; elevated erythrocyte sedimentation rate; nasal congestion; dry throat; severe fatigue; vertigo |
Autoinflammatory Disorders |
Autosomal recessive |
| Hyper IgD Syndrome and periodic fever |
Short stature; failure to thrive; microcephaly; dolichocephaly; wide, irregular fontanels; triangular facies; low-set ears; posteriorly rotated ears; downward slanting palpebral fissures; blue sclerae; central cataracts; nystagmus; fluctuating hepatomegaly; fluctuating splenomegaly; vomiting; diarrhea; arthralgia; morbilliform rash; edema;psychomotor retardation; generalized hypotonia; progressive ataxia; developmental delay; cerebellar atrophy; Cerebral atrophy; agenesis of cerebellar vermis; normocytic hypoplastic anemia; leukocytosis; thrombocytopenia; elevated IgD; increased creatine kinase; elevated transaminases; serum cholesterol low or normal; elevated leukotriene E(4); decreased ubiquinone-10; elevated urinary mevalonic acid; recurrent febrile seizures;lymphadenopathy; hepatosplenomegaly; vomiting; diarrhea;rash; edema |
Autoinflammatory Disorders |
Autosomal recessive |