Table 3. Clinical features of 6... | American Society of Hematology

Table 3.

Clinical features of 6 CD40L-deficient patients with mild disease

		Atypical mild phenotype
	Typical phenotype	Thr 254 Met Patient 61	Thr 254 Met Patient 62	Thr 254 Met Patient 63	Arg 11 stop Patient 1	IVS2 + 2 t > a Patient 17	367G > A Patient 19
Age at onset of symptoms, y	1.2 (range, 0.18-5)	23	14	5	8	17	5
Age when analyzed, y		63	22	28	22	24	17
PCP	42%	-	-	-	-	-	-
Neutropenia	62%	-	-	Intermittent	-	-	-
B19-induced red blood cell aplasia	No	No	Yes	No	Yes	Yes	No
Anti-CD40L mAb binding	D/+	+	+	+	+	+	+
CD40-Ig binding	D	D	D	D	(+)	(+)	(+)

		Atypical mild phenotype
	Typical phenotype	Thr 254 Met Patient 61	Thr 254 Met Patient 62	Thr 254 Met Patient 63	Arg 11 stop Patient 1	IVS2 + 2 t > a Patient 17	367G > A Patient 19
Age at onset of symptoms, y	1.2 (range, 0.18-5)	23	14	5	8	17	5
Age when analyzed, y		63	22	28	22	24	17
PCP	42%	-	-	-	-	-	-
Neutropenia	62%	-	-	Intermittent	-	-	-
B19-induced red blood cell aplasia	No	No	Yes	No	Yes	Yes	No
Anti-CD40L mAb binding	D/+	+	+	+	+	+	+
CD40-Ig binding	D	D	D	D	(+)	(+)	(+)

PCP indicates pneumocystis carinii pneumonia; +, CD40L expressed normally; (+), CD40L detected, but decreased compared with normal; D, dramatically decreased or absent CD40L expression; -, absent.

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