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Table 1 Genetic testing results of patients referred to molecular immunology service (2005–2014)

From: Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand

Test

Genes

Patients

Carriers?

Index patients tested positiveb

% tested positive

aHUS/C3 glomerulopathy

CD46

15

 

1

7

CFH

 

1

7

CFI

 

0

0

ALPS

CD95

7

 

0

0

APECED

AIRE

1

 

0

0

CGD-AR

NCF1

8

4

4

50

CGD-XL

CYBB

3

1

3

100

CHARGE

CHD7

1

 

0

0

C2 deficiency

C2

1

 

0

0

CAPS

NLRP3/CIAS1

9

2

3

33

DOCK8 deficiency

DOCK8

1

 

0

0

EDA-ID

NEMO

1

 

1

100

Griscelli type 2

RAB27A

3

 

3

100

HAE

SERPING1

13

3

6

46

HAE type IIIa

 

17

 

0

0

HLH

Perforin

20

 

1

5

UNC13D

 

1

5

STXBP2

 

0

0

STX11

 

0

0

HIM-XL

CD40L

12

2

3

25

HIM

AICDA

4

 

0

0

UNG

 

0

 

AUG

 

0

 

CD40

 

0

 

Hyper IgE

STAT3

9

 

4

44

IPEX

FoxP3

1

 

0

0

LPD-AR (EBV driven)

ITK

1

 

0

0

LPD-XL (XLP)

SH2D1A

32

9

1

3

BIRC4

 

1

3

Netherton syndrome

SPINK5

1

 

0

0

Periodic fever syndrome

MEFV

11

 

2

18

MVK

 

0

0

Properdin deficiency

properdin

1

 

0

0

SCID-AR

JAK3

2

2

1

11

RAG1 & 2

3

 

0

0

ADA

0

 

0

0

LIG4

1

 

0

0

Artemis

1

 

0

0

Cern. Factorc

1

 

0

0

IL-7R

1

 

0

0

SCID-XL

IL2-RG

4

1

2

50

SDS

SBDS

1

2

1

100

TRAPS

TNFRSF1A

19

 

2

11

UNC93b deficiency

UNC93b

1

 

0

0

WAS

WASP

10

 

5

50

WHIM syndrome

CXCR4

1

 

0

0

XLA

BTK

11

4

8

73

Total

 

228

30

53

23

  1. aHUS atypical haemolytic uremic syndrome; ALPS autoimmune lymphoproliferative syndrome; APECED autoimmune polyendocrinopathy type 1; CGD-XL X-linked chronic granulomatous disease; CGD-AR autosomal recessive chronic granulomatous disease; CHARGE coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality; CAPS cryopyrin-associated periodic syndrome; EDA-ID ectodermal dysplasia and immunodeficiency; HAE hereditary angioedema; HAE type III type 3 hereditary angioedema; HLH hemophagocytic lymphohistiocytosis; HIM-XL hyper immunoglobulin M syndrome, X-linked; HIM hyper immunoglobulin M syndrome; IPEX immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome; LPD-AR lymphoproliferative disorder, autosomal recessive; LPD-XL lymphoproliferative disorder, X-linked; SCID-AR autosomal recessive severe combined immune deficiency; SCID-XL X-linked severe combined immune deficiency; SDS Shwachman-Diamond syndrome; TRAPS TNF receptor-associated periodic syndrome; WAS Wiskott-Aldrich syndrome; WHIM warts, hypogammaglobulinemia, infections, and myelokathexis; XLP X-linked lymphoproliferative syndrome; XLA X-linked agammaglobulinemia
  2. aDNA from patients with suspected factor XII mutation were sent to Sonic laboratories in Sydney
  3. bMutations of genes tested positive for disorders were described in Table 2
  4. cCernunnos factor