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Pathology Photo of the Day - "On a WHIM"

WHIM Syndrome

Dr Sampurna Roy MD                   June  2016

 


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The acronym WHIM includes:

W = Warts,

H =  Hypogammaglobulinemia,

I  =  Infections, and

M =  Myelokathexis.

The WHIM syndrome is a rare, autosomal dominant primary immunodeficiency disorder.

In 1990, clinical manifestations of warts (W), hypogammaglobulinaemia (H), bacterial infections (I), and myelokathexis (M) were noted in a family including a father and his two daughters, and Wetzler et al proposed that these features characterized a new disorder and introduced the name WHIM syndrome.

Warts-  Patients may present with numerous warts -Human papillomavirus (HPV) infection.

 

Venereal wart may result in cervical and vulval premalignant dysplasia.

Hypogammaglobulinemia- It is associated with recurrent upper respiratory infections (sinusitis, tonsillitis, otitis media, pneumonia).

 

Myelokathexis - In 1964, Zuelzer used a new term  "Myelokathexis" to describe chronic peripheral neutropenia in the presence of increased neutrophils of distinct morphology in the bone marrow.

Bizarre looking hypersegmented neutrophil.

Chronic neutropenia and hypercellular bone marrow represent defective release of marrow cells into the peripheral stream.

Fever or other stress related factors can cause increase in the release of neutrophils.

The hypermature neutrophils have a bizarre appearance.

Most neutrophils are hypersegmented with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes are long.

Examination of bone marrow smear shows morphological abnormalities of mature neutrophils strongly suggestive of myelokathexis.

Diagnosis of WHIM syndrome is confirmed by molecular analysis.

Mutation was identified in the gene encoding CXCR4, the CXCL12 (or SDF-1) chemokine receptor.

It controls cell adhesion to the marrow stroma and regulates mature leukocytes release from the bone marrow.

 

Further reading:

A WHIM satisfactorily addressed.

WHIM syndrome: a genetic disorder of leukocyte trafficking.

WHIM syndrome, an autosomal dominant disorder: clinical, hematological, and molecular studies.

WHIM syndrome.

Genetics on a WHIM.

A new familial immunodeficiency disorder characterized by severe neutropenia, a defective marrow release mechanism, and hypogammaglobulinemia.  

“Myelokathexis”--a New Form of Chronic Granulocytopenia. Report of a Case.  

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.

WHIM syndrome: a case report and literature review .

Human papillomavirus typing of verrucae in a patient with WHIM syndrome.

Epstein-Barr virus-associated T-lymphoproliferative disease with hemophagocytic syndrome, followed by fatal intestinal B lymphoma in a young adult female with WHIM syndrome. Warts,hypogammaglobulinemia, infections, and myelokathexis.

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.

WHIM syndrome and oral squamous cell carcinoma.

A report of WHIM syndrome (myelokathexis) - clinical features and bone marrow morphology.

 

 

"I make decisions on a whim. My life, my choices. Hope you don't have a problem".

 

                    New Posts      Previous Posts

 

Dr  Sampurna Roy  MD

Consultant  Histopathologist (Kolkata - India)

 

                                                                                                           


 

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