1. Mendelian
  2. Rare Diseases
  3. WHIM SYNDROME; WHIMS

Whim Syndrome

Table of contents:

Description

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).

Genes related to Whim Syndrome

  • CXCR4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Whim Syndrome

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency
  • Pneumonia
  • Respiratory failure
  • Carcinoma
  • Arthritis
  • Respiratory tract infection

And another 29 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Whim Syndrome Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome, warts-infections-leukopenia-myelokatexis syndrome, wilm, warts-hypogammaglobulinemia-infections-myelokathexis syndrome.

Researches and researchers

Doctors, researchs, and experts related to Whim Syndrome extracted from public data.

Whim Syndrome Experts map



Current Researchs and researchers

  • CLAMART — Dr Françoise BACHELERIE

    Coordinator of research network

    • Institution/s:
      — Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
    • Research area/topic::

      WHIM-Thernet: WHIM syndrome: Pathological basis and development of therapeutic molecules


  • CLAMART — Dr Karl BALABANIAN

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — Institut Paris-Saclay d'Innovation thérapeutique (IPSIT)
    • Research area/topic::

      OSTEOVALYMPH: Autocrine/paracrine CXCL12/CXCR4-CXCR7 signaling within the bone marrow osteo-vascular niche: impact on lymphoid specification and commitment of hematopoietic stem cells - FR


  • FREIBURG — Pr Stephan EHL

    Coordinator of expert centre - Clinical expert - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • FREIBURG — Dr Carsten SPECKMANN

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsklinikum Freiburg
      — CCI am Universitätsklinikum Freiburg
    • Research area/topic::

      A prospective, international, multicentre cohort study (observational study) study on patients with profound combined immunodeficiency (P-CID)


  • HANNOVER — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


  • TÜBINGEN — Pr Karl H. WELTE

    Clinical expert - Investigator of research project - Manager of registry - Manager of biobank/collection - Coordinator of research network - Coordinator of patient registry network - Director of department

    • Institution/s:
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
      — Behandlungs- und Forschungszentrum für Seltene Erkrankungen ZSE Tübingen
      — Universitätsklinik für Kinder- und Jugendmedizin Tübingen
      — Zentrum für Kinderheilkunde und Jugendmedizin, Medizinische Hochschule Hannover
    • Research area/topic::

      BMFS: Network for Congenital Bone Marrow Failure Syndromes


Whim Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, SBDS, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Inherited Neutropenia Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TAZ, WAS, WIPF1, VPS45, HAX1, LYST, VPS13B, CSF3R, G6PC3, CXCR4, USB1, LAMTOR2, ELANE, SLC37A4, GATA1, GATA2, GFI1, AP3B1, RAB27A, RAC2
Specificity
5 %
Genes
100 %
CXCR4 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CXCR4
Specificity
100 %
Genes
100 %
CXCR4 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

CXCR4
Specificity
100 %
Genes
100 %
Inherited Bone Marrow Failure Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, RUNX1, BRCA2, SRP72, TERC, TERT, TINF2, WAS, XRCC2, SAMD9, SAMD9L , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
Severe Congenital Neutropenia Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

WAS, VPS45, HAX1, CSF3R, G6PC3, CXCR4, ELANE, GFI1
Specificity
13 %
Genes
100 %

You can get up to 27 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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