Table 1. Summary of genetic, clinical,... | American Society of Hematology

Table 1.

Summary of genetic, clinical, and biologic findings in patients with HPSII

	Patient no.
Characteristic	P40^*	P42^*	P87†	P04/05‡
Genetic mutation	Del390-480,L580R	390-410Del,L580R	R509XE,659X	R320X homozygote
Age at report, y	20	25	5	2
Clinical characteristic
Albinism	+	+	+	+
Nystagmus	+	+	+	+
Facial dysmorphia	−	−	+	+
Dysplastic acetabulae	+	+	?	+
Developmental delay	−	−	+	+
Poor balance	+	+	?	−
Pulmonary fibrosis	+	+	+	?
Bleeding (moderate)	+	+	+	+
Neutrophil count, μL	200-832	320-1160	530-1635	0-992
Recurrent Infection	URI	URI	RSV, flu, rota, Pseudomonas	Strep, Staph, Klebs, Candida
Hepatosplenomegaly	?	?	+	+
Hemophagocytosis				+
Biologic characteristic
PLT aggregation	↓ ADP, Coll	↓ ADP, Coll	↓ ADP, Coll, Epi	↓ ADP, Coll, Epi
PLT-dense bodies	Absent	Absent	Absent	Reduced, enlarged
CD63 expression	↑ Fibroblast	↑ Fibroblast	↑ Fibroblast	↑ PLT, CTL§
Cytolytic activity	?	?	?	↓ CTL,§ NK

	Patient no.
Characteristic	P40^*	P42^*	P87†	P04/05‡
Genetic mutation	Del390-480,L580R	390-410Del,L580R	R509XE,659X	R320X homozygote
Age at report, y	20	25	5	2
Clinical characteristic
Albinism	+	+	+	+
Nystagmus	+	+	+	+
Facial dysmorphia	−	−	+	+
Dysplastic acetabulae	+	+	?	+
Developmental delay	−	−	+	+
Poor balance	+	+	?	−
Pulmonary fibrosis	+	+	+	?
Bleeding (moderate)	+	+	+	+
Neutrophil count, μL	200-832	320-1160	530-1635	0-992
Recurrent Infection	URI	URI	RSV, flu, rota, Pseudomonas	Strep, Staph, Klebs, Candida
Hepatosplenomegaly	?	?	+	+
Hemophagocytosis				+
Biologic characteristic
PLT aggregation	↓ ADP, Coll	↓ ADP, Coll	↓ ADP, Coll, Epi	↓ ADP, Coll, Epi
PLT-dense bodies	Absent	Absent	Absent	Reduced, enlarged
CD63 expression	↑ Fibroblast	↑ Fibroblast	↑ Fibroblast	↑ PLT, CTL§
Cytolytic activity	?	?	?	↓ CTL,§ NK

+ indicates presence; −, absence; ?, unknown; URI, upper-respiratory infection; RSV, respiratory syncytial virus; rota, rotavirus infection; strep, streptococcal infection; staph, staphylococcal infection; Klebs, Klebsiella infection; Coll, collagen; Epi, epinephrine; and Plt, platelet.

Data for this patient are from Dell' Angelica et al¹⁴ and Shotelersuk et al.¹⁵

†

Data for this patient are from Huizing et al.¹⁶

‡

Data for this patient are from this study.

These findings were also reported in CTLs obtained from a fifth patient with HPSII, for whom no further clinical details are available (Clark et al¹³).

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