Whim Syndrome 1 (WHIMS1)

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OMIM®: ⁵⁷ WHIM syndrome-1 (WHIMS1) is an autosomal dominant immunologic disorder characterized by neutropenia, hypogammaglobulinemia, and warts due to human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). Heusinkveld et al. (2019) provided a detailed review of the clinical features, proposed pathogenesis, and possible therapeutic treatments of WHIM syndrome. There is significant phenotypic variation among patients, such that some individuals may have an 'incomplete' form of the disorder in which one or more of the classic tetrad features are not present. In general, the WHIMS phenotype comprises a spectrum of manifestations with variable expressivity. The pathogenesis of WHIMS1 is postulated to result from impaired CXCL12 (600835)-induced internalization of CXCR4, resulting in prolonged receptor presence at the cell surface that likely contributes to amplification of signaling with a gain-of-function effect. (193670) (Updated 08-Dec-2022)

MalaCards based summary: Whim Syndrome 1, also known as whim syndrome, is related to lymphopenia and combined immunodeficiency. An important gene associated with Whim Syndrome 1 is CXCR4 (C-X-C Motif Chemokine Receptor 4), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. The drugs Plerixafor and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, bone and myeloid, and related phenotypes are lymphopenia and neutropenia

GARD: ¹⁹ WHIM syndrome is an acronym for a rare immunodeficiency disorder with each letter representing a predominant feature of the condition: (W) = warts; (H) = hypogammaglobulinemia; (I) = infections; and (M) = myelokathexis (retention of neutrophils in the bone marrow). Symptoms usually begin in early childhood with recurrent bacterial infections such as respiratory infections and cellulitis. It is caused by genetic changes in the CXCR4 gene and is inherited in an autosomal dominant manner.

Orphanet: ⁵⁸ WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

UniProtKB/Swiss-Prot: ⁷³ An autosomal dominant immunologic disease characterized by neutropenia, hypogammaglobulinemia and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis.

Disease Ontology: ¹¹ An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has material basis in heterozygous mutation in the CXCR4 gene on chromosome 2q22.

Wikipedia: ⁷⁵ WHIM syndrome (or Warts, Hypogammaglobulinemia, Immunodeficiency, and Myelokathexis syndrome) is a rare... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Whim Syndrome 1