Table 6 Miscellaneous and polygenic autoinflammatory diseases
Disorder | Gene | Inheritance | OMIM | Clinical features |
|---|---|---|---|---|
ADA2 deficiency | ADA2 | AR | 607575 | Polyarteritis nodosa, early-onset ischemic strokes, fever and cytopenias |
VEXAS syndrome | UBA1 | XL (somatic) | 301054 | Late-onset treatment refractory inflammatory syndrome (fevers, cytopenias, dysplastic bone marrow, interstitial nephritis, chondritis, vasculitis) |
Schnitzler syndrome | NA | NA | NA | Chronic urticarial rash, fever, bone pain, monoclonal gammopathy |
PFAPA syndrome | NA | NA | NA | Recurrent fever, aphthous stomatitis, pharyngitis, tonsilitis, cervical adenitis, abdominal pain |
CNO/CRMO | Multiple | Multiple | 612852/259680 | Recurrent painful aseptic bone lesions |
SAPHO syndrome | NA | NA | NA | Synovitis, acneiform lesions, neutrophilic dermatosis, hyperostosis, osteitis |
Still’s disease | NA | NA | NA | Recurrent fever, polyarthritis, salmon-colored rash associated with body temperature spikes, elevated inflammatory markers |
TRIAD | NA | NA | NA | Fever, erythema nodosum, gastrointestinal manifestation, myelodysplastic syndrome |
LAVLI | LYN | AD GOF | 620376 | Cutaneous small vessel vasculitis, periorbital edema, hepatosplenomegaly, periostitis, thrombocytopenia |
NCKAP1L deficiency | NCKAP1L | AR LOF | 618982 | Rash, skin abscesses, atopy, ulcers, recurrent infections, fever, severe malnutrition, lymphoproliferation |
XLP syndrome | XIAP | LX | 300079 | Splenomegaly, lymphoproliferation, colitis, hepatitis, hypogammaglobulinemia, HLH |
SIFD syndrome | TRTN1 | AR | 616084 | Fever, developmental delay, seizures, microcytic anemia and hypogammaglobulinemia |
RIPK1 deficiency | RIPK1 | AD/AR | 618852/618108 | Colitis, recurrent infections, progressive polyarthritis, fever, lymphadenopathy, hepatosplenomegaly, ulcers |
TGFB1 deficiency | TGFB1 | AR | 618213 | Recurrent viral infections, microcephaly, encephalopathy, early-onset colitis |
NFAT5 haploinsufficiency | NFAT5 | AD | 604708 | Severe early-onset colitis, hypogammaglobulinemia, elevated IgE |
TBK1 deficiency | TBK1 | AR | NA | Polyarthritis, vasculitis, developmental delay |