Table 1 Patient characteristics Patient... | American Society of Hematology

Table 1

Patient characteristics

Patient	Age at onset, sex	Current age	STAT3 variant*	Autoimmunity				Lymphoproliferation		Postnatal short stature†
Patient	Age at onset, sex	Current age	STAT3 variant*	Hematologic	Endocrine	GI	Other	LAD	Other	Postnatal short stature†
1	4y, M	10y	p.G421R	AIHA	No	Hepatitis	Scleroderma, polyarthritis	Yes	HSM	Yes
2	7y, M	31y	p.T663I	AIHA, AITP	No	No	No	Yes	HSM	No
3	3y, M	25y	p.R152W	AIHA, AITP	IDDM	No	Alopecia, lung nodules	Yes	HSM	No
4	13y, M	32y	p.V353F	AIHA, AITP, AIN	No	No	Inflammatory lung disease	Yes	No	No
5	3y, F	5y	p.Q344H	AIHA	No	Enteropathy	LIP	Yes	HSM	Yes
6	5y, F	9y	p.E415K	none	IDDM	Enteropathy, achalasia	Atopic dermatitis	Yes	HSM	Yes
7	<1y, F	23y	p.T716M	AIHA, AITP, AIN	Hypothyroid	Enteropathy	No	No	No	Yes
8	3y, F	Dec 11y	p.N420K	AIHA, AITP, AIN	No	No	Polyarthritis	Yes	No	No
Family 1
9, Proband	<1y, F	26y	p.A703T	AIHA, AITP, AIN	No	Small bowel thickening	LIP, atopic dermatitis, alopecia	Yes	HSM	Yes
10, Father	15y, M	Dec 28y	p.A703T	AIHA, AIN	No	No	LIP	Yes	HSM	n/a
11, Sibling	12y, F	24y	p.A703T	AITP, AIN	No	No	No	Yes	HSM	n/a
Family 2
12, Proband	<1y, M	4y	p.T716M	none	No	Enteropathy	No	No	No	Yes
13, Father	EO, M	32y	p.T716M	AITP	No	Enteropathy	No	No	Hodgkin lymphoma	Yes‡

Patient	Age at onset, sex	Current age	STAT3 variant*	Autoimmunity				Lymphoproliferation		Postnatal short stature†
Patient	Age at onset, sex	Current age	STAT3 variant*	Hematologic	Endocrine	GI	Other	LAD	Other	Postnatal short stature†
1	4y, M	10y	p.G421R	AIHA	No	Hepatitis	Scleroderma, polyarthritis	Yes	HSM	Yes
2	7y, M	31y	p.T663I	AIHA, AITP	No	No	No	Yes	HSM	No
3	3y, M	25y	p.R152W	AIHA, AITP	IDDM	No	Alopecia, lung nodules	Yes	HSM	No
4	13y, M	32y	p.V353F	AIHA, AITP, AIN	No	No	Inflammatory lung disease	Yes	No	No
5	3y, F	5y	p.Q344H	AIHA	No	Enteropathy	LIP	Yes	HSM	Yes
6	5y, F	9y	p.E415K	none	IDDM	Enteropathy, achalasia	Atopic dermatitis	Yes	HSM	Yes
7	<1y, F	23y	p.T716M	AIHA, AITP, AIN	Hypothyroid	Enteropathy	No	No	No	Yes
8	3y, F	Dec 11y	p.N420K	AIHA, AITP, AIN	No	No	Polyarthritis	Yes	No	No
Family 1
9, Proband	<1y, F	26y	p.A703T	AIHA, AITP, AIN	No	Small bowel thickening	LIP, atopic dermatitis, alopecia	Yes	HSM	Yes
10, Father	15y, M	Dec 28y	p.A703T	AIHA, AIN	No	No	LIP	Yes	HSM	n/a
11, Sibling	12y, F	24y	p.A703T	AITP, AIN	No	No	No	Yes	HSM	n/a
Family 2
12, Proband	<1y, M	4y	p.T716M	none	No	Enteropathy	No	No	No	Yes
13, Father	EO, M	32y	p.T716M	AITP	No	Enteropathy	No	No	Hodgkin lymphoma	Yes‡

LAD, lymphadenopathy; EO, early childhood onset; Dec, deceased; AIHA, autoimmune hemolytic anemia; AITP, autoimmune thrombocytopenia; AIN, autoimmune neutropenia; IDDM, insulin-dependent diabetes mellitus; LIP, lymphocytic interstitial pneumonia; HSM, hepatosplenomegaly; n/a, not available.

Amino acid substitution based on coding sequence of NM_139276.2.

†

Less than fifth percentile.

‡

Percentile n/a.

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