. 2016 Nov 7;7:466. doi: 10.3389/fimmu.2016.00466

Table 2.

Genetic variants associated with novel features of PID.

Patient	NGS method	Gene	Mutation	Protein	Prediction score		Zygosity	Inheritance	Clinical and immunological phenotype
Patient	NGS method	Gene	Mutation	Protein	SIFT	PolyPhen2	Zygosity	Inheritance	Clinical and immunological phenotype
005	T-NGS	MYD88	c.192_194del	p.Glu66del	–	–	Hom	AR	Chronic yersiniosis and terminal ileitis, recurrent severe cutaneous granulomatous abscesses, hyper IgE, hypereosinophilia, neutropenia
006	WES	PLDN	c.232C>T	p.Q78X	–	–	Hom	AR	Partial oculocutaneous albinism, nystagmus, recurrent cutaneous infections, thrombocytopenia, leukopenia, NK deficiency
007	WES	DOCK8/CLEC7A	c.3193delA	p.Ser1065Ala	–	–	Hom/Hom	AR	Intractable diarrhea, eczema, malignancy, food allergies, hyper IgE, lymphopenia
007	WES	DOCK8/CLEC7A	c.3193delA	X17/p.Tyr238X	–	–	Hom/Hom	AR

MYD88 variant was identified through T-NGS in a patient with atypical features of MyD88 deficiency, presenting with chronic yersiniosis. PLDN variant was identified through WES in a patient with incomplete features of Hermansky–Pudlak type II syndrome and impairment of NK cytolytic activity. DOCK8/CLEC7A variants were identified for the first time in a patient with intractable diarrhea, malignancy, and features of Hyper IgE syndrome.