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Table 2 Detailed genetic analysis of some PID patients from PIDB in Iran

From: Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran

ID

Validated by Sanger

Method

Disease

Gene affected

Mutation

Comment

P1

No

NGS

Not known

CDX1 (exone 3)

G > A, p. E209D

Heterozygous gene mutation in CDX1 (exone 3)

P2

Yes

NGS

Ab def

NFKB2

Not reported yet

Frame shift mutation in NFKB2

P3

No

CVID panel, WES

UI*

–

–

No deleterious mutation diagnosed in the CVID chip

P4

No

Hyper IgE panel, WES

UI*

–

–

No promising data have been detected

P5

Yes

NGS,

Bruton

BTK

c.1783T > C, p.Y551H

Missense mutation in BTK

P6

No

CVID panel, WES

UI*

–

–

No deleterious mutation diagnosed in the CVID chip

P7

Yes

NGS,

Netherton syndrome

SPINK5

c.A/−, p.N755Mfs*27

Homozygous nonsense mutation in SPINK5; (Netherton)

P8(A)

Yes

Primary Ab def panel

Bruton

BTK

c.115T > C, p.Y39H

 

P9(A)

Yes

Primary Ab def panel

Bruton

BTK

c.115T > C, p.Y39H

 

P10

Yes

NGS

CID

PIK3CD

c.3061G > A,p.E1021 K

Heterozygous mutation in the PIK3CD gene

P11

Yes

NGS

CID (MHC II def)

RFXANK

c.438 + 5G > A

RFXANK/BLS (Bare Lymphocyte Syndrome)

P12

Yes

WES

Phagocytic defect

STAT 1

c.1945C > T, p.R649C

Heterozygous gene mutation in STAT 1

P13

No

MSMD panel, WES

UI*

–

–

No mutation in MSMD genes

P14

No

WES

AT

ATM gene (exon 39)

c.5623C > T,p.Arg1875

Rare homozygous variants here; mutation in exon 39 of ATM gene in homozygous form ATM gene

P15

No

NGS

SCID

PTPRC(CD45RO)

c.2539A > G

CD45RO deficiency

P16 (B)

Yes

WES

CGD

NCF1

Completely absent

Complete lack of the NCF1 gene that encodes p47-phox, a component of NADPH oxidase enzyme. Only NCF1 pseudogenes were found

P17 (B)

Yes

WES

CGD

NCF1

Completely absent

Complete lack of the NCF1 gene that encodes p47-phox, a component of NADPH oxidase enzyme. Only NCF1 pseudogenes were found

P18

Yes

NGS

WAS

WAS

non-reported

Non-reported mutation in exon 8 was found as hemizygous (WAS)

P19

YES

WES

CID (CD40 def)

TNFRSF13B

IVS3 + 25 A > C

Heterozygote mutation in TNFRSF13B)

P20 (C)

Yes

WES

LAD

ITGB2

1670 G > C

Mutation in ITGB2 gene (LAD I)

P21 (C)

Yes

WES

LAD

ITGB2

1670 G > C

Mutation in ITGB2 gene (LAD I)

P22

Yes

WES

CGD (X-linked)

CYBB (exon 3)

c.252 + 5 G > C

Mutation in exon 3 of CYBB gene on Ch-X

P23 (D)

Yes

WES

FMF

MEFV

c.2282G > A:p.R761H/c.2040G < C:p.M680H

Homozygous mutation in MEFV gene

P24 (D)

Yes

WES

FMF

MEFV

c.2040G < C:p.M680H

Heterozygous mutation in MEFV gene

P25 (D)

Yes

WES

FMF

MEFV

c.2282G > A:p.R761H

Heterozygous mutation in MEFV gene

P26 (D)

Yes

WES

FMF

MEFV

c.2282G > A:p.R761H

Heterozygous mutation in MEFV gene

P27 (D)

Yes

WES

FMF

MEFV

c.2040G < C:p.M680H

Heterozygous mutation in MEFV gene

P28

Yes

WES

SCN

JAGN1

c.59G > A,p.Arg20Glu

Homozygous mutation in JAGN1 gene

P29

Yes

WES

SCN

JAGN1

c.40G > A, p.Gly14Ser

Homozygous mutation in JAGN1 gene

P30 (E)

Yes

SNP mapping array

MST1 def

STK4

c.G750A, p.W250X

Homozygous stop codon mutation in exon 7 of the gene STK4

P31 (E)

Yes

SNP mapping array

MST1 def

STK4

c.G750A, p.W250X

Homozygous stop codon mutation in exon 7 of the gene

P32 (E)

Yes

SNP mapping array

MST1 def

STK4

c.G750A, p.W250X

Homozygous stop codon mutation in exon 7 of the gene STK4

P33

No

CVID panel

Ab def (CD40L def)

TNFSF5

c.521A > G

Homozygous mutation in TNFSF5 gene

P34 (F)

Yes

NGS

CGD

CYBA

c.388C > T; p.G130X

Homozygous non-sense mutation in CYBA-encoding p22-phox:CAG codon change for Gln-130 → TAG stop codon

P 35 (F)

Yes

NGS

CGD

CYBA

c.388C > T; p.G130X

Homozygous non-sense mutation in CYBA-encoding p22-phox:CAG codon change for Gln-130 → TAG stop codon

P 36 (H)

Yes

WES

CGD

CYBB

C730delT; p.Cys244ValfsX10

One base-pair deletion in CYBB, the X-ch linked gene encoding gp91-phox

P 37 (H)

Yes

WES

CGD

CYBB

C730delT; p.Cys244ValfsX10

One base-pair deletion in CYBB, the X-ch linked gene encoding gp91-phox

  1. * UI Under Investigation
  2. Patients with the same letter in parentheses after their IDs are from one family