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

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]