The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory

Table 2

Patients’, mutations list, and clinical indications. 17 out of 37 patients were listed. The identified causative novel mutations () marked in bold in patients 1, 10, 14, 16, and 17. All the other mutations were confirmed with the clinical data published by the references given. Clinical indications for molecular testing according to the family history, consanguinity status, and clinical presentation were given.

Patient #	Gene	Mutation	RS ID assigned by; the dbSNP database/ClinVar accession #/somatic mutation database #	Clinical indication for molecular testing
1	IL12RB1	p.C87 (c.261C>A) homozygote	Novel	(+) family history; Consanguinity (+); BCG disease
2	IL12RB1	p.R175W (c.523C>T); homozygote	rs750667928	(+) family history; Consanguinity (+); Mucocutaneous Candida infections
3	IL12RB1	p.R213W (c.637C>T); homozygote	rs121434494	(+) family history; Consanguinity (+); Mycobacterial disease
4	IL12RB1	p.R175W (c.523C>T); homozygote	rs750667928	(+) family history; Consanguinity (+); Klebsiella pneumoniae
5	RMRP	TIS+147G>T; homozygote	rs753874439	(+) family history; Consanguinity (+); Light-colored hair and malformed nails
6	DOCK8	p.E237K (c.709G>A); homozygote	rs11789099	(+) family history; Consanguinity (+); Frequent pneumonia and hypereosinophilia
7	DOCK8	p.L284V (c.850C>G); homozygote	rs762990689	family history; Consanguinity (+); Hypereosinophilia
8	STAT1	p.E638Q (c.1912G>C); homozygote	COSM1014147 (MU1911384)	family history; Consanguinity Candidiasis
9	PNP	p.Glu89Lys (c.265G>A); homozygote	rs104894453	(+) family history; Consanguinity (+); Developmental delay and chronic diarrhea
10	STAT3	p.R382Q (c.1145G>A) heterozygote	Novel	family history; Consanguinity Dental abnormalities and hyper-IgE
11	STAT3	p.F621L (c.1863C>G); heterozygote	SCV000590715	family history; Consanguinity Recurrent skin infections and hyper-IgE
12	ATM	p.V835S (c.2502_2503insA); homozygote	rs587779822	(+) family history; Consanguinity (+); Ataxia
13	ATM	p.R35; (c.103C>T); homozygote	rs55861249	family history; Consanguinity (+); Ataxia
14	ATM	p.D2708E (c.8124T>A) homozygote	Novel	(+) family history; Consanguinity (+); Ataxia and elevated alpha-fetoprotein
15	HAX1	p.W44X; (c.130_131 insA); homozygote	SCV000025090	(+) family history; Consanguinity (+); Neutropenia
16	DCLRE1C	p.T52M (c.155C>T); homozygote	Novel	(+) family history; Consanguinity (+); Leukopenia and low antibody levels
17	DCLRE1C	IVS5-1G>A homozygote	Novel	(+) family history; Consanguinity (+); Leukopenia and low antibody levels

RMRP, RNA component of mitochondrial RNA processing endoribonuclease; PNP, purine nucleoside phosphorylase.