Immunodeficiency due to selective anti-polysaccharide antibody deficiency

What it is

From: Orphanet

A rare primary immunodeficiency characterized by normal immunoglobulin levels (including IgG sub-classes) but impaired polysaccharide responsiveness.

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.

Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Very frequent (99-80%).

The inability to synthesize postvaccination antibodies against a protein-conjugated Haemophilus influenzae type b (Hib) antigen, as measured by antibody titer determination following vaccination.

Complete or near-complete absence of specific antibody response to pneumococcus vaccine

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Very frequent (99-80%).

The inability to synthesize postvaccination antibodies against a pneumococcus antigen, as measured by antibody titer determination following vaccination.

Decreased specific antibody response to polysaccharide vaccine

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Very frequent (99-80%).

A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.

Decreased specific antibody response to protein-conjugated polysaccharide vaccine

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Very frequent (99-80%).

A reduced ability to synthesize postvaccination antibodies against protein-conjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination.

Specific anti-polysaccharide antibody deficiency

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Very frequent (99-80%).

The presence of normal overall immunoglobulin levels with deficiency of specific immunoglobulins directed against bacterial polysaccharides.

Decreased proportion of memory B cells

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

A reduction in the normal proportion of memory B cells (CD19+/CD27+) in circulation relative to the total number of B cells. Memory B cells develop from naive B cells. Upon antigen rechallenge, memory B cells rapidly expand and differentiate into plasma cells under the cognate control of memory Th cells (Phase IV).

Otitis media

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

Inflammation or infection of the middle ear.

Recurrent bacterial upper respiratory tract infections

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

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

Recurrent upper and lower respiratory tract infections

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

Increased susceptibility to upper and lower respiratory tract infections as manifested by recurrent episodes of upper and lower respiratory tract infections.

Rhinitis

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

Inflammation of the nasal mucosa with nasal congestion.

Sinusitis

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Frequent (79-30%).

Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction.

Asthma

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Occasional (29-5%).

Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing.

Atopic dermatitis

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Occasional (29-5%).

Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage.

Decreased total B cell count

From: Orphanet · Human Phenotype Ontology Consortium

Reported frequency: Occasional (29-5%).

The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group.

Other findings in the same source

From: Orphanet

Additional reported features include Recurrent bacterial meningitis (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

Multigenic/multifactorial

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Immunodeficiency due to selective anti-polysaccharide antibody deficiency 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.

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 Immunodeficiency due to selective anti-polysaccharide antibody deficiency. 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.