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Article

[Late diagnosis of WHIM sydrome].

Medicina - 1 Jan 2018

Paolini María V, Danielian Silvia, Prieto Emma, Tami María Fernanda, Oleastro Matías M, Fernández Romero Diego S

Abstract excerpt

WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10...

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Source

Identifiers

PMID: 29659363

Genes

CXCR4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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