MedGen

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome) is an adult-onset inflammatory disease that primarily affects males and is caused by somatic, not germline, mutations. The disorder is characterized by adult onset of rheumatologic symptoms at a mean age of 64 years. Features include recurrent fevers, pulmonary and dermatologic inflammatory manifestations, vasculitis, deep vein thrombosis, arthralgias, and ear and nose chondritis. Laboratory studies indicate hematologic abnormalities, including macrocytic anemia, as well as increased levels of acute-phase reactants; about half of patients have positive autoantibodies. Bone marrow biopsy shows degenerative vacuolization restricted to myeloid and erythroid precursor cells, as well as variable hematopoietic dyspoiesis and dysplasias. The condition does not respond to rheumatologic medications and the features may result in premature death (summary by Beck et al., 2020). [from OMIM]

A rare, congenital anomaly of the great arteries characterized by cranially situated aortic arch ascending into the neck above the clavicles. Most patients remain asymptomatic, some present with a murmur and a pulsatile neck mass, stridor, dyspnea, recurrent bronchitis, dysphagia or signs and symptoms of a stenosis/aneurism of the aortic arch. Other congenital heart anomalies are frequently associated, including abnormalities of arch laterality and branching, aortic coarctation or aneurysm. [from ORDO]

Immunodeficiency-59 and hypoglycemia (IMD59) is an autosomal recessive primary immunologic disorder characterized by combined immunodeficiency and recurrent septic infections of the respiratory tract, skin, and mucous membranes, as well as disturbed glucose metabolism. Granulocytopenia and B-cell and dendritic cell deficiency are present (Haapaniemi et al., 2017). [from OMIM]

Arterial inflammation. [from HPO]