Table 3.

Overrepresented syndromic features identified in JAK1 variant-positive individuals by blinded systematic review of EHRs^a

	Odds ratio (95% CI)	P value (Fisher’s exact)	Variant positive (n = 43)	Variant negative (n = 129)
Sex (female)	1.098 (0.5504–2.204)	0.8609	22	63
Autoimmunity	2.203 (1.066–4.551)	0.0412*	21	39
Hashimoto thyroiditis	9.600 (1.377–125.4)	0.0487*	3	1
Rheumatic disease	8.355 (1.659–42.67)	0.0112*	5	2
Autoimmunity and ≥ any one category	2.335 (1.106–4.880)	0.0235*	20	35
Autoimmunity and ≥ any two categories	2.47 (1.167–5.044)	0.0252*	17	27
Atopy	1.499 (0.7531–3.050)	0.2908	23	56
Atopy and ≥ any one category	1.665 (0.8196–3.372)	0.1553	21	47
Atopy and ≥ any two categories	2.183 (1.074–4.626)	0.0513	18	32
Colitis (GI inflammation)	1.499 (0.7554–3.083)	0.2922	24	59
Colitis and ≥ any one category	1.649 (0.8265–3.365)	0.1619	23	53
Colitis and ≥ any two categories	2.43 (1.147–5.101)	0.0219*	20	34
Dermatitis	1.323 (0.6304–2.701)	0.5798	30	82
Dermatitis and ≥ any one category	1.675 (0.8299–3.466)	0.2143	28	68
Dermatitis and ≥ any two categories	2.559 (1.256–5.011)	0.0105*	23	40
Any 3+ categories (autoimmunity, atopy, colitis, or dermatitis)	2.559 (1.256–5.011)	0.0105*	23	40

^aOdds ratios with 95% confidence interval (CI) generated using Baptista Pike method. P values generated using Fisher’s exact test (two-tailed) test. P values <0.05 are indicated by an asterisk (*). Variant-positive and variant-negative columns indicate the number of EHRs with at least one finding present for each row.