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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