Table 3. Clinical Findings in UBA1 Pathogenic or Likely Pathogenic Variant Carriers.

Participant	Clinical diagnoses			Clinical characteristicsa				Laboratory findingsb						Medications (ever)
	Attributed to VEXAS	Rheumatologic	Hematologic	Autoimmune involvement	Dermatologic involvement	Pulmonary involvement	Hematologic involvement	Hemoglobin, g/dL (nadir)	Platelet count, ×109/L (nadir)	MCV, fL (peak)	ESR, mm/h (peak)	Bone marrow biopsy results	Specialist visits
1	None	None	None	Yes	Yesc	Yesc	Yes	10.2	82	115.5	104	NA	NA	Methylprednisone
2	Yes	None	Myelofibrosis,c MDS	No	Yes	Yes	Yes	5.5	8	100.9	NA	Cytoplasmic vacuoles (myeloid and erythroid) and megaloblastic changes	Hematologist, pulmonologist	Ruxolitinib
3	Yes	None	MDS	Yes	No	Yes	Yes	6	28	119	NA	Cytoplasmic vacuoles (myeloid) and megaloblastic changes	Hematologist, pulmonologist	Prednisone
4	Yes	Giant cell arteritisc	None	Yes	Yes	Yes	Yes	7.8	118	126.4	106	NA	Rheumatologist, pulmonologist	Prednisone
5	Yes	Dermatomyositis	MDS	Yesc	Yes	No	Yes	7.5	55	116	17	Cytoplasmic vacuoles (myeloid) and megaloblastic changes	Hematologist	Methylprednisone, prednisone, mycophenolate mofetil
6	Yes	Psoriasis,c polymyalgia rheumaticac	Chronic myeloid leukemia,c MGUSc	Yes	Yes	Yes	Yes	7.5	18	126		NA	Rheumatologist, hematologist, pulmonologist	Colhicine, prednisone, methylprednisolone
7	None	None	None	Yes	Yes	Yes	Yes	10	125	115.8	NA	NA	Rheumatologist, hematologist, pulmonologist
8	Yes	Sarcoidosis	MDSc	Yes	Yes	Yes	Yes	7.3	102	109.3	107	Cytoplasmic vacuoles (myeloid)	Rheumatologist, hematologist, pulmonologist	Methylprednisone, prednisone
9	None	None	None	Yesc	No	Yes	Yes	7.4	91	93.1	37	Cytoplasmic vacuoles (myeloid) and megaloblastic changes	Hematologist, pulmonologist	Methylprednisone, prednisone
10	None	None	None	Yesc	Yes	Yes	Yes	9	178	97.8	NA	NA	Rheumatologist, pulmonologist	Prednisone
11	None	None	None	No	No	Yes	Yes	7.9	83	97.3	NA	NA	Pulmonologist
12d	None	Granulomatosis with polyangiitisc	None	Yes	Yes	No	Yes	13.9	86	95.9	NA	NA	Rheumatologist, hematologist
Total, %	55	36	45	82	73	91	100	Mean (SD), 8.3 (2.2)	Mean (SD), 81.2 (48.7)	Mean (SD), 109.4 (12.0)

Abbreviations: MDS, myelodysplastic syndrome; MGUS, monoclonal gammopathy of undetermined significance.

^a Based on International Classification of Diseases, Tenth Revision (ICD-10) codes and clinical review. Hematologic involvement was defined as anemia and/or thrombocytopenia. Dermatologic and pulmonary diagnoses listed when possible, with details for ICD coding and clinical diagnoses in eTables 1-2 in Supplement 1.

^b References ranges: hemoglobin, 12-17 g/dL; platelet count, 150-400 ×10⁹/L; mean corpuscular volume (MCV), 80-95 fL; erythrocyte sedimentation rate (ESR), 0-30 mm/h. Mean (SD) patient values, excluding patient with highly suspicious variant: hemoglobin, 7.8 (1.5) g/dL; MCV, 110.6 (11.7) fL; platelet count, 80.7 (51.0) ×10⁹/L.

^c Clinical findings absent on ICD-10 codes but present on chart review.

^d Participant with a highly suspicious variant of uncertain significance; not included in total percentages.