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1.

Autoimmune interstitial lung disease-arthritis syndrome

Systemic autoinflammation and autoimmunity with immune dysregulation (AIAISD) is an autosomal dominant systemic autoinflammatory disorder with autoimmunity and immune dysregulation. Affected individuals present in the first decade of life with variable features that may include interstitial lung disease, alveolar hemorrhage, inflammatory arthritis, neuromyelitis optica, livedo reticularis, dysautonomia, recurrent infections, and renal disease. Laboratory studies usually show high-titer autoantibodies and features of inflammation, including a type I interferon (e.g., 147660) signature and elevation of inflammatory cytokines. The disorder shows significant incomplete penetrance; most carrier parents are unaffected (summary by Watkin et al., 2015; Delafontaine et al., 2024). [from OMIM]

MedGen UID:
1800821
Concept ID:
C5243948
Disease or Syndrome
2.

Crescentic glomerulonephritis

A type of extracapillary glomerulonephritis characterized by the formation of crescent-like cellular proliferation. [from HPO]

MedGen UID:
96040
Concept ID:
C0403416
Disease or Syndrome

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