Table 1. Features of APDS1 and APDS2... | Rockefeller University Press

Table 1.

Features of APDS1 and APDS2

	PIK3R1 LOF patients	Pik3r1 LOF mice	PIK3CD GOF patients	Pik3cd GOF mice
Bone marrow	•↓ Mature B cells •↑ Pro-B cells	•Normal mature cells •↑ Pro-B cells	•↓ Mature B cells •↑ Pre-B cells	•↓ Mature B cells •↑ Pre-B cells
Peripheral B cells	•↑ Transitional cells •↓ Naïve and memory •↓ IgG⁺memory B cells	•Normal total B cells •↑ Marginal zone cells •↓ Follicular cells	•↑ Transitional cells •↓ Naïve and memory •↓ IgG⁺, IgA⁺memory B cells	•↑ Total B cells •↑ Marginal zone cells •↓ Follicular cells
B cell activation	•↑ Proliferation in vitro •↓ Ig class switching	•↑ Proliferation in vitro •↓ Ig class switching	•↑ Proliferation in vitro •↓ Ig class switching	•↑ Proliferation in vitro •↓ Ig class switching
B cell response to immunization		•↓ Expansion •Normal GC and plasmablast differentiation •↓ Ig class switching •Normal SHM •↓ Affinity maturation		•Normal expansion •Normal GC and plasmablast differentiation •↓ Ig class switching •Normal SHM •Normal affinity maturation
T cells	•↓ Naïve and ↑ memory CD4⁺ and CD8⁺ T cells	•Normal naïve CD4⁺and CD8⁺T cells, ↑ CD8⁺ effector memory cells	•↓ Naïve and ↑ memory CD4⁺ and CD8⁺ T cells in patients	•↓ Naïve and CD4⁺and CD8⁺T cells, ↑memory T cells in mice (cell extrinsic effect)
T cell differentiation	•↑ Th2 cells •Normal % Tfh ex vivo	•↑ Th2 cells •Normal % Tfh preimmunization •Normal CD4⁺T cell expansion to immunization •↓ Tfh function	•↑ Th2 cells •↑ % Tfh ex vivo	•↑ Th2 cells •↑ % Tfh preimmunization •↓ CD4⁺T cell expansion to immunization •↓ Tfh function
Extra immune phenotype		•↓ Mutant pups at weaning •↓Weight		•Normal Mendelian ratios

	PIK3R1 LOF patients	Pik3r1 LOF mice	PIK3CD GOF patients	Pik3cd GOF mice
Bone marrow	•↓ Mature B cells•↑ Pro-B cells	•Normal mature cells•↑ Pro-B cells	•↓ Mature B cells•↑ Pre-B cells	•↓ Mature B cells•↑ Pre-B cells
Peripheral B cells	•↑ Transitional cells•↓ Naïve and memory•↓ IgG⁺memory B cells	•Normal total B cells•↑ Marginal zone cells•↓ Follicular cells	•↑ Transitional cells•↓ Naïve and memory•↓ IgG⁺, IgA⁺memory B cells	•↑ Total B cells•↑ Marginal zone cells•↓ Follicular cells
B cell activation	•↑ Proliferation in vitro•↓ Ig class switching	•↑ Proliferation in vitro•↓ Ig class switching	•↑ Proliferation in vitro•↓ Ig class switching	•↑ Proliferation in vitro•↓ Ig class switching
B cell response to immunization		•↓ Expansion•Normal GC and plasmablast differentiation•↓ Ig class switching•Normal SHM•↓ Affinity maturation		•Normal expansion•Normal GC and plasmablast differentiation•↓ Ig class switching•Normal SHM•Normal affinity maturation
T cells	•↓ Naïve and ↑ memory CD4⁺ and CD8⁺ T cells	•Normal naïve CD4⁺and CD8⁺T cells, ↑ CD8⁺ effector memory cells	•↓ Naïve and ↑ memory CD4⁺ and CD8⁺ T cells in patients	•↓ Naïve and CD4⁺and CD8⁺T cells, ↑memory T cells in mice (cell extrinsic effect)
T cell differentiation	•↑ Th2 cells•Normal % Tfh ex vivo	•↑ Th2 cells•Normal % Tfh preimmunization•Normal CD4⁺T cell expansion to immunization•↓ Tfh function	•↑ Th2 cells•↑ % Tfh ex vivo	•↑ Th2 cells•↑ % Tfh preimmunization•↓ CD4⁺T cell expansion to immunization•↓ Tfh function
Extra immune phenotype		•↓ Mutant pups at weaning•↓Weight		•Normal Mendelian ratios

Differences between APDS1 and APDS2 are indicated in bold.