WHIM syndrome

What it is

From: Orphanet

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).

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Abnormality of neutrophil morphology · Very frequent (99-80%)

An abnormal form or size of neutrophils.

Bone marrow hypercellularity · Very frequent (99-80%)

A larger than normal amount or percentage of hematopoietic cells relative to marrow fat.

Decreased total neutrophil count · Very frequent (99-80%)

Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.

Lymphopenia · Very frequent (99-80%)

A reduced number of lymphocytes in the blood.

Myelokathexis · Very frequent (99-80%)

Impaired egress of mature neutrophils from bone marrow causing neutropenia.

Decreased circulating antibody level · Frequent (79-30%)

An abnormally decreased level of immunoglobulin in blood.

Papilloma · Frequent (79-30%)

A tumor of the skin or mucous membrane with finger-like projections.

Pneumonia · Frequent (79-30%)

Inflammation of any part of the lung parenchyma.

Recurrent bacterial infections · Frequent (79-30%)

Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection.

Recurrent pneumonia · Frequent (79-30%)

An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia.

Recurrent upper respiratory tract infections · Frequent (79-30%)

An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).

Respiratory tract infection · Frequent (79-30%)

An infection of the upper or lower respiratory tract.

Verrucae · Frequent (79-30%)

Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas.

Abnormality of speech or vocalization · Occasional (29-5%)

An abnormality in the sound (volume) or cadence (rate) of speech.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormality of the small intestine (Occasional (29-5%)); Bronchiectasis (Occasional (29-5%)); Cervix cancer (Occasional (29-5%)); Limb ataxia (Occasional (29-5%)); Otitis media (Occasional (29-5%)); Pharyngitis (Occasional (29-5%)); Poor fine motor coordination (Occasional (29-5%)); Postural instability (Occasional (29-5%)); Sinusitis (Occasional (29-5%)); Tetralogy of Fallot (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Adolescent; Adult; Childhood

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; Not applicable

Frequency and the population described

From: Orphanet

Reported case(s): 65.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only. Prevalence at birth: <1 / 1 000 000; France; Value and class.

Which doctor should you see?

The suggested department for discussing WHIM syndrome is Allergy and Immunology, with a allergist / clinical immunologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the history suggest an allergy, an immune problem or another explanation?
• How would any proposed allergy or immune test change care?
• Is an individual emergency plan needed, and who should understand it?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for WHIM syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.