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   Articles with "whim syndrome" as a keyword



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Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency

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recommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"

DOI: 10.1080/21678707.2017.1375403

Abstract: ABSTRACT Introduction: WHIM syndrome is a rare combined primary immunodeficiency disorder caused by autosomal dominant gain-of-function mutations in the chemokine receptor CXCR4. It is the only Mendelian condition known to be caused by mutation of… read more here.

Keywords: immunodeficiency; whim syndrome; genetics; pathogenesis diagnosis ... See more keywords
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WHIM syndrome: Immunopathogenesis, treatment and cure strategies

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recommendations! Published in 2019 at "Immunological Reviews"

DOI: 10.1111/imr.12719

Abstract: WHIM syndrome is a rare, autosomal dominant immunodeficiency which is named for the four key manifestations: Warts, Hypogammaglobulinemia, Infections, and Myelokathexis. It results from heterozygous gain‐of‐function mutations in the chemokine receptor CXCR4 which is widely… read more here.

Keywords: syndrome immunopathogenesis; whim syndrome; immunopathogenesis treatment; cure strategies ... See more keywords
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Cxcr4-haploinsufficient bone marrow transplantation corrects leukopenia in an unconditioned WHIM syndrome model

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recommendations! Published in 2018 at "Journal of Clinical Investigation"

DOI: 10.1172/jci120375

Abstract: For gene therapy of gain-of-function autosomal dominant diseases, either correcting or deleting the disease allele is potentially curative. To test whether there may be an advantage of one approach over the other for WHIM (warts,… read more here.

Keywords: unconditioned whim; whim syndrome; model; transplantation ... See more keywords
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Severe CD8+ T Lymphopenia in WHIM Syndrome Caused by Selective Sequestration in Primary Immune Organs.

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recommendations! Published in 2023 at "Journal of immunology"

DOI: 10.4049/jimmunol.2200871

Abstract: Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is an ultra-rare combined primary immunodeficiency disease caused by heterozygous gain-of-function mutations in the chemokine receptor CXCR4. WHIM patients typically present with recurrent acute infections associated with myelokathexis… read more here.

Keywords: cell; whim; whim syndrome; lymphopenia whim ... See more keywords