Table 1. Overview of reported diseased... | Rockefeller University Press

Table 1.

Overview of reported diseased DADA2 carriers in literature

Study	Age at onset (years)	ADA2 genotype	Clinical phenotype	ADA2 activity	Treatment
Zhou et al. (1)	Adulthood	p.Y453C/WT	Small vessel ischemic stroke	Unknown	Unknown
Zhou et al. (1)	Adulthood	p.Y453C/WT	Hypertension, small vessel ischemic stroke	Unknown	Warfarin
Rama et al. (130)	5	p.G47R/WT	Recurrent fever, elevated CRP levels, cephalgia, arthralgia, myalgia, papular rash with pruritic and GI manifestations	Carrier range	Unknown
Nihira et al. (120)	10	p.E328K/WT	Fever, intracranial hemorrhage, cerebral infarction, livedo racemosa, splenomegaly, and renal infarction	Low	Infliximab and SCIG replacement
Nihira et al. (120)	12	p.E328K/WT	Diplopia, memory disturbances, livedo racemosa, and renal infarction	Low	Infliximab and SCIG replacement
Schnappauf et al. (106)	Adulthood	p.Y453C/WT	PAN with fever, cutaneous ulcers, and neuropathy	High carrier range	Unknown
Moi et al. (131)	Childhood	p.R169Q/WT	Arthritis, recurrent infections, and common variable immunodeficiency	Carrier range	IVIG replacement
Celikel et al. (134)	1.5	p.G47R/WT	Recurrent fever, elevated CRP levels, and anemia	Unknown	Etanercept
Izumo et al. (132)	9	p.F355L/p.Y453C	Elevated CRP levels, livedo, and multiple cerebral infarctions	Carrier range	Infliximab
Pulvirenti et al. (129)	12	p.Y453C/WT	Fever, skin rash, hypogammaglobulinemia, and lymphadenitis	Unknown	No treatment
Yilmaz et al. (133)	20	p.R49Afs*13/WT	Crohn’s disease	Carrier range	Surgery plan

Study	Age at onset (years)	ADA2 genotype	Clinical phenotype	ADA2 activity	Treatment
Zhou et al. (1)	Adulthood	p.Y453C/WT	Small vessel ischemic stroke	Unknown	Unknown
Zhou et al. (1)	Adulthood	p.Y453C/WT	Hypertension, small vessel ischemic stroke	Unknown	Warfarin
Rama et al. (130)	5	p.G47R/WT	Recurrent fever, elevated CRP levels, cephalgia, arthralgia, myalgia, papular rash with pruritic and GI manifestations	Carrier range	Unknown
Nihira et al. (120)	10	p.E328K/WT	Fever, intracranial hemorrhage, cerebral infarction, livedo racemosa, splenomegaly, and renal infarction	Low	Infliximab and SCIG replacement
Nihira et al. (120)	12	p.E328K/WT	Diplopia, memory disturbances, livedo racemosa, and renal infarction	Low	Infliximab and SCIG replacement
Schnappauf et al. (106)	Adulthood	p.Y453C/WT	PAN with fever, cutaneous ulcers, and neuropathy	High carrier range	Unknown
Moi et al. (131)	Childhood	p.R169Q/WT	Arthritis, recurrent infections, and common variable immunodeficiency	Carrier range	IVIG replacement
Celikel et al. (134)	1.5	p.G47R/WT	Recurrent fever, elevated CRP levels, and anemia	Unknown	Etanercept
Izumo et al. (132)	9	p.F355L/p.Y453C	Elevated CRP levels, livedo, and multiple cerebral infarctions	Carrier range	Infliximab
Pulvirenti et al. (129)	12	p.Y453C/WT	Fever, skin rash, hypogammaglobulinemia, and lymphadenitis	Unknown	No treatment
Yilmaz et al. (133)	20	p.R49Afs*13/WT	Crohn’s disease	Carrier range	Surgery plan