WHIM syndrome

Jump to: navigation, search
WHIM syndrome
OMIM 193670
DiseasesDB 32165

WikiDoc Resources for WHIM syndrome

Articles

Most recent articles on WHIM syndrome

Most cited articles on WHIM syndrome

Review articles on WHIM syndrome

Articles on WHIM syndrome in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on WHIM syndrome

Images of WHIM syndrome

Photos of WHIM syndrome

Podcasts & MP3s on WHIM syndrome

Videos on WHIM syndrome

Evidence Based Medicine

Cochrane Collaboration on WHIM syndrome

Bandolier on WHIM syndrome

TRIP on WHIM syndrome

Clinical Trials

Ongoing Trials on WHIM syndrome at Clinical Trials.gov

Trial results on WHIM syndrome

Clinical Trials on WHIM syndrome at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on WHIM syndrome

NICE Guidance on WHIM syndrome

NHS PRODIGY Guidance

FDA on WHIM syndrome

CDC on WHIM syndrome

Books

Books on WHIM syndrome

News

WHIM syndrome in the news

Be alerted to news on WHIM syndrome

News trends on WHIM syndrome

Commentary

Blogs on WHIM syndrome

Definitions

Definitions of WHIM syndrome

Patient Resources / Community

Patient resources on WHIM syndrome

Discussion groups on WHIM syndrome

Patient Handouts on WHIM syndrome

Directions to Hospitals Treating WHIM syndrome

Risk calculators and risk factors for WHIM syndrome

Healthcare Provider Resources

Symptoms of WHIM syndrome

Causes & Risk Factors for WHIM syndrome

Diagnostic studies for WHIM syndrome

Treatment of WHIM syndrome

Continuing Medical Education (CME)

CME Programs on WHIM syndrome

International

WHIM syndrome en Espanol

WHIM syndrome en Francais

Business

WHIM syndrome in the Marketplace

Patents on WHIM syndrome

Experimental / Informatics

List of terms related to WHIM syndrome


WHIM Syndrome (or Wart, Hypogammaglobulinemia, Infection, and Myelokathexis syndrome) is a rare congenital immunodeficiency disorder characterized by chronic noncyclic neutropenia.

Diagnosis

Patients exhibit increased susceptibility to bacterial and viral infections, especially from common serotype human papilloma virus, resulting in warts on the hands and feet starting in childhood. Myelokathexis refers to retention (kathexis) of neutrophils in the bone marrow (myelo). In addition, lymphocytes and antibody levels (gammaglobulins) are often deficient.

Pathophysiology

WHIM syndrome has an autosomal dominant pattern of inheritance.

WHIM syndrome results from autosomal dominant mutations in the gene for the chemokine receptor, CXCR4,[1][2] resulting in a carboxy-terminus truncation of the receptor of between ten and 19 residues. The gene mutant is located on 2q21. WHIM syndrome is one of only a few diseases directly and primarily caused by an aberrant chemokine, making its molecular biology important in understanding the role of cell signaling and trafficking.

References

  1. Hernandez PA, Gorlin RJ, Lukens JN; et al. (2003). "Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease". Nat. Genet. 34 (1): 70–4. PMID 12692554. doi:10.1038/ng1149. 
  2. Kawai T, Choi U, Cardwell L; et al. (2007). "WHIM syndrome myelokathexis reproduced in the NOD/SCID mouse xenotransplant model engrafted with healthy human stem cells transduced with C-terminus-truncated CXCR4". Blood. 109 (1): 78–84. PMC 1785067Freely accessible. PMID 16946301. doi:10.1182/blood-2006-05-025296. 



Linked-in.jpg