Article

WHIMS2 new homozygous variant

2026-05-25

Abstract excerpt

<title>Abstract</title> <p> Background WHIM syndrome type 2 (WHIMS2; OMIM #619407) is an ultra-rare autosomal recessive primary immunodeficiency caused by biallelic loss-of-function (LOF) variants in <italic>CXCR2</italic> . Fewer than twelve patients have been molecularly confirmed worldwide. G-CSF represents the only available standard therapy, but its mechanistic efficacy may be inherently limited by CXCR2...

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Literature Corpus work: fbcc44d8-0171-5eea-b082-422ab214d9a6
DOI: 10.21203/rs.3.rs-9779576/v1

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