Table 2.

Salient features of ADA2 deficiency and phospholipase Cγ2-associated diseases

Disease	DADA2	PLAID	APLAID
Gene	CECR1	PLCG2	PLCG2
Protein	Adenosine deaminase 2	Phospholipase Cγ2	Phospholipase Cγ2
Type of mutation	Missense mutations and 28-kb deletion	In-frame genomic deletions	Missense mutation
			p.Ser707Tyr
Effect on the protein	Loss-of-function	Gain-of-function	Gain-of-function
Mode of inheritance	Autosomal recessive	Autosomal dominant	Autosomal dominant
Clinical characteristicsa	Fever	Cold-induced urticaria	Neutrophilic dermatosis
	Livedo racemosa	Granulomatous disease	Blistering skin rash
	Lacunar strokes	Allergy	Nonspecific interstitial pneumonitis with respiratory bronchiolitis
	Polyarteritis nodosa (PAN)	Autoimmune disease	Arthralgia
	Hepatosplenomegaly with portal hypertension		Ocular inflammation
	Sneddon syndrome		Enterocolitis
			Cellulitis
Immunodeficiency	B cell immunodeficiency, hypogammaglobulinemia M	Hypogammaglobulinemia	Decreased serum IgM and IgA
		Recurrent infections	Recurrent sinopulmonary infections
		Common variable immunodeficiency disease

^aVariable percentages of affected patients.