Table 4.

Individuals with MCD and HαT

Diagnosis	Age, y	Gender	Tryptase genotype		Current World Health Organization–defined criteria for SM diagnosis
			α	β	MC aggregates∗	Spindle†	KIT p.D816V†	CD2 or CD25†	BST	>20 ng/ mL†	>99.5% prediction interval	New diagnosis‡
ISM	66-70	M	3	2	Yes	Yes	Positive	Positive	236	Yes	Yes	No
ISM	20-25	M	4	2	Yes	Yes	Positive	Positive	107	Yes	Yes	No
ISM	66-70	F	3	2	Yes	Yes	Positive	Positive	88.7	Yes	Yes	No
ISM	66-70	F	3	2	Yes	Yes	Negative	Positive	70	Yes	Yes	No
ISM	10-15	F	2	3	Yes	Yes	Positive	Positive	60.1	Yes	Yes	No
MMAS	70-75	F	3	2	No	No	Negative	Positive	52.2	Yes	Yes	No
ISM	50-55	M	3	2	No	Yes	Positive	Positive	51	Yes	Yes	No
ISM	70-75	F	3	2	No	Yes	Positive	Negative	42	Yes	Yes	No
MMAS	66-70	F	2	3	No	No	Positive	Negative	38.8	Yes	Yes	No
ISM (well-differentiated)	30-35	F	3	2	Yes	No	Negative	Negative	37.9	Yes	Yes	No
ISM	10-15	M	3	2	No	Yes	Positive	Positive	37.6	Yes	Yes	No
MMAS	20-25	M	3	2	No	No	Positive	Negative	37	Yes	Yes	No
Diffuse cutaneous mastocytosis	6-10	M	3	2	Na	Na	Negative§	Na	32.6	Yes	No	No
ISM	56-60	F	2	3	No	Yes	Positive	Positive	32.2	Yes	No	No
MMAS	50-55	F	3	2	No	Yes	Negative	Negative	27.3	Yes	No	No
MMAS	60-65	M	3	2	No	No	Positive	Negative	26.8	Yes	No	No
ISM (well-differentiated)	26-30	F	2	3	Yes	No	Negative	Negative	26.8	Yes	No	Yes
ISM	30-35	F	3	2	No	Yes	Positive	Positive	23.7	Yes	No	No
MMAS	60-65	M	2	3	No	No	Positive	Negative	23.1	Yes	No	No
MMAS	56-60	M	3	2	No	No	Positive	Negative	20.3	Yes	No	No
MMAS	66-70	F	2	3	No	No	Positive	Negative	18.8	No	No	No

The individual with a change in diagnosis based on genotype-defined BST reference values is indicated in bold italic font.

MMAS, monoclonal mast cell activation syndrome.

^∗Major criteria for the diagnosis of SM.

^†Minor criteria for the diagnosis of SM.

^‡A new diagnosis being assigned based on application of the 99.5% threshold for BST, rather than >20 ng/mL.

^§In peripheral blood only.