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Table 2 Mutations detected in patients referred to the service (2005–2014)

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

Test Genes Mutation References
aHUS/C3 glomerulopathy MCP, CFH, CFI CFH: c.3120delT, F960Xfs
MCP: c.995_996delAG, S274fsX284
[7, 29]
CGD-XL NCF1 c.87_88delGT, c.271G > A (V25FsX51, R90H) (2 patients)
no NCF1 gene, only pseudogene present (2 patients)
[30, 31]
CGD-AR CYBB c.1461 + 1G > A, IVS11 + 1G > A
deletion of exons 9–13
c.987C > A, C329X
[32, 33]
CAPS NLRP3/CIAS1 c.913G > A, D305 N
c.2113C > A, Q705 K
c.920T > C, L307P
[34, 35]
EDA-ID NEMO c.742G > C, A162P [36]
Griscelli type 2 RAB27A c.550C > T, R184X [37]
HAE C1-INH/serping1 c.188C > T, S63F
c.539A > C, Q180P
c.1342G > T, E488X
c.1396C > T, R466C
c.1089delG, K364fsX32
c.1034_1035insCCAC, Q346fsX369
[38,39,40,41]
HLH perforin, UNC13D perforin: c.272C > T (A91 V),
UNC13D: c.175G > A (A59T)
[42]
HIM-XL CD40L c.475G > A, W140X
c.147delG, R49fsX53
[43]
Hyper-IgE STAT3 c.2115C > T, Q633X
c.1909G > A, V637 M
c.1235C > A, T412 N
c.2134G > C, V712L
[44, 45]
Periodic fever syndrome MEFV, MVK MEFV: c.442G > C, c.1105C > T (E148Q, P369S)
MEFV: c.1105C > T, c.1223G > A (P369S, R408Q)
[46, 47]
SCID-AR JAK3 c.1351C > T, c.2148G > A (R451X, W716X) [48]
SCID-XL IL2-RG c.677G > A, R226H
c.196A > C, Q61P
[49]
SDS SDSP c.184A > T (K62X), 258 + 2T > C (IVS2 + 2T > C) [50, 51]
TRAPS TNFRSF1A c.362G > A, R121Q (low penetrance SNP, 2 patients) [52]
WAS WASP c.431G > A, E133 K (2 patients)
c.257G > A, R86H
c.523_524delAG, R156fsX167
c.134C > T, R38X
[53,54,55]
XLP SH2D1A, BIRC4 SH2D1A: c.261delT, Q88fsX95
BIRC4: c.598_600delTGC, C200del
[56, 57]
XLA BTK c.1691G > A, R520Q (2 patients)
c.1100C > A, A367E
c.1906_1908GAG > TTT, E636F
c.1581_1584delTTTG, C527fsX528 (2 patients)
1567-2A > C (IVS15-2A > C)
776 + 1G > A (IVS8 + 1G > A)
[58, 59]