Table 1. Major clinical features of 3... | American Society of Hematology

Table 1.

Major clinical features of 3 patients with immunodeficiency and immune dysregulation

	P1	P2	P3
Immunodeficiency
Recurrent respiratory tract infections	++	+	++
Bronchiectasis	++	+	++
Herpes viral infection	++	+	+
Lymphoproliferation
Lymphadenopathy	+	+	+
Hepatosplenomegaly	+	+	+
Lymphoma	+	+	+
Autoimmunity
Autoimmune cytopenias	+	+	−
Autoantibodies	+	+	−
Laboratory values
Class-switched memory B cells	↓	↓	↓
FasL-mediated apoptosis	↓	↓	Normal
Soluble FasL	↑	↑	Normal
DNTs	↑	↑/Normal	↑
Specific antibodies	Normal	ND	↓
Developmental delay
Moderate	+	+	+
Outcome of HSCT
Autologous T-cell reconstitution	+	+	+
Autologous T-cell reconstitution	Split mixed chimerism	Rejected and died	Rejected and died

	P1	P2	P3
Immunodeficiency
Recurrent respiratory tract infections	++	+	++
Bronchiectasis	++	+	++
Herpes viral infection	++	+	+
Lymphoproliferation
Lymphadenopathy	+	+	+
Hepatosplenomegaly	+	+	+
Lymphoma	+	+	+
Autoimmunity
Autoimmune cytopenias	+	+	−
Autoantibodies	+	+	−
Laboratory values
Class-switched memory B cells	↓	↓	↓
FasL-mediated apoptosis	↓	↓	Normal
Soluble FasL	↑	↑	Normal
DNTs	↑	↑/Normal	↑
Specific antibodies	Normal	ND	↓
Developmental delay
Moderate	+	+	+
Outcome of HSCT
Autologous T-cell reconstitution	+	+	+
Autologous T-cell reconstitution	Split mixed chimerism	Rejected and died	Rejected and died

+, feature present; ++, major feature; −, feature absent; ↓, lower than normal; ↑, higher than normal; ND, not determined.