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Items: 4

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.

Anti-glomerular basement membrane disease

Goodpasture syndrome, also known as anti-GBM disease, is a rare autoimmune disease consisting of alveolar hemorrhage and glomerulonephritis secondary to circulating antiglomerular basement membrane (anti-GBM) antibodies. Anti-GBM antibodies are directed against an antigen intrinsic to the alpha-3 chain of type IV collagen (COL4A3; 120070) that is expressed in the GBMs of the glomerular capillary loops and the basal membrane of the pulmonary alveoli. Goodpasture syndrome is suspected in patients with hemoptysis and hematuria and is confirmed by the presence of anti-GBM antibodies in renal biopsy specimens and serum. Patients with human leukocyte antigen HLA-DR15 and HLA-DR4 are susceptible to the development of Goodpasture syndrome. Reported cases of familial Goodpasture syndrome are extremely rare (summary by Angioi et al., 2017). [from OMIM]

MedGen UID:
140788
Concept ID:
C0403529
Disease or Syndrome
3.

Granulomatosis with polyangiitis

Granulomatosis with polyangiitis, formerly termed Wegener granulomatosis, is a systemic disease with a complex genetic background. It is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera. These ANCAs are antibodies to a defined target antigen, proteinase-3 (PR3, PRTN3; 177020), which is present within primary azurophil granules of neutrophils (PMNs) and lysozymes of monocytes. On cytokine priming of PMNs, PR3 translocates to the cell surface, where PR3-ANCAs can interact with their antigens and activate PMNs. PMNs from patients with active GPA express PR3 on their surface, produce respiratory burst, and release proteolytic enzymes after activation with PR3-ANCAs. The consequence is a self-sustaining inflammatory process (Jagiello et al., 2004). [from OMIM]

MedGen UID:
811223
Concept ID:
C3495801
Disease or Syndrome
4.

Pulmonary hypertension, primary, 6

Primary pulmonary hypertension-6 (PPH6) is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries (Postma et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of primary pulmonary hypertension, see PPH1 (178600). [from OMIM]

MedGen UID:
1863339
Concept ID:
C5935600
Disease or Syndrome

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