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

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

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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