Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

Table 3 Literature summary of CXCR4 gene mutations reported in WHIM Syndrome pedigrees – information from 27 informative pedigrees including the two WT CXCR4

Nucleotide change	Amino acid change	Number of reported pedigrees (including present study)	Reference
c.969_970insG	G323fs343X	1	Present study
c.1000C>T	R334X	15	[4, 43, 59, 64]–[66] and present study
c.1006G>T	G336X	1	[66]
c.1013C>G	S338X	3	[7, 21, 62] and present study
c.1016-17delCT	S339fsX342	2	[4, 63]
c.1021delT	S341fsX365	1	[41]
c.1027G>T	E343X	1	[4]
c.1027G>A	E343K	1	[5]
Wild Type	No mutation	2	[7, 9, 32] and present study,

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