Non-syndromic agammaglobulinemia

What it is

From: Orphanet

Isolated agammaglobulinemia (IA) is the non-syndromic form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by deficient gamma globulins and associated predisposition to frequent and recurrent infections from infancy.

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.

Abnormal lymphocyte morphology · Very frequent (99-80%)

An abnormality of lymphocytes.

Diarrhea · Very frequent (99-80%)

Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.

Failure to thrive · Very frequent (99-80%)

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Fatigue · Very frequent (99-80%)

A subjective feeling of tiredness characterized by a lack of energy and motivation.

Fever · Very frequent (99-80%)

Body temperature elevated above the normal range.

Immunodeficiency · Very frequent (99-80%)

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Inflammatory abnormality of the eye · Very frequent (99-80%)

Inflammation of the eye, parts of the eye or the periorbital region.

Otitis media · Very frequent (99-80%)

Inflammation or infection of the middle ear.

Recurrent cutaneous abscess formation · Very frequent (99-80%)

An increased susceptibility to cutaneous abscess formation, as manifested by a medical history of recurrent cutaneous abscesses.

Recurrent respiratory infections · Very frequent (99-80%)

An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections.

Sinusitis · Very frequent (99-80%)

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

Skin rash · Very frequent (99-80%)

A red eruption of the skin.

Skin ulcer · Very frequent (99-80%)

A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.

Abnormality of neutrophils · Frequent (79-30%)

A neutrophil abnormality.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormality of the lymphatic system (Frequent (79-30%)); Pneumonia (Frequent (79-30%)); Abnormal facial shape (Occasional (29-5%)); Abnormality of the tonsils (Occasional (29-5%)); Anemia (Occasional (29-5%)); Arthritis (Occasional (29-5%)); Autoimmunity (Occasional (29-5%)); Cellulitis (Occasional (29-5%)); Clinodactyly of the 5th toe (Occasional (29-5%)); Malabsorption (Occasional (29-5%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Infancy; Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Autosomal recessive; X-linked recessive

Frequency and the population described

From: Orphanet

Point prevalence: 1-9 / 1 000 000; Worldwide; Value and class.

Which doctor should you see?

The suggested department for discussing Non-syndromic agammaglobulinemia 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 Non-syndromic agammaglobulinemia. 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.