T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency

What it is

From: Orphanet

Severe combined immunodeficiency (SCID) due to DCLRE1C deficiency is a type of SCID characterized by severe and recurrent infections, diarrhea, failure to thrive, and cell sensitivity to ionizing radiation.

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.

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

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.

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

Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells.

Autoimmune hemolytic anemia · Frequent (79-30%)

An autoimmune form of hemolytic anemia.

Bronchiectasis · Frequent (79-30%)

Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways.

Cutaneous abscess · Frequent (79-30%)

A circumscribed area of pus or necrotic debris in the skin (within the epidermis or dermis).

Cutaneous granuloma · Frequent (79-30%)

A granuloma localized to the skin, that is, a chronic inflammatory manifestation with localized aggregation of histiocytes with or without other inflammatory cells (such as plasma cells, eosinophils, or neutrophils), with or without necrosis, with or without vasculitis, with or without calcification, and with or without foreign bodies. Granulomas may be due to infection or chronic inflammatory disease or reactions to foreign material.

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

Decreased levels of immunoglobulin A (IgA).

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

An abnormally decreased level of immunoglobulin G (IgG) in blood.

Recurrent bacterial infections · Frequent (79-30%)

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

Recurrent opportunistic infections · Frequent (79-30%)

Increased susceptibility to opportunistic infections as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.

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

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

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.

Autoimmune thrombocytopenia · Occasional (29-5%)

The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.

Autoimmunity · Occasional (29-5%)

The occurrence of an immune reaction against the organism's own cells or tissues.

Other findings in the same source

From: Orphanet

Additional reported features include Chronic oral candidiasis (Occasional (29-5%)); Failure to thrive (Occasional (29-5%)); Juvenile rheumatoid arthritis (Occasional (29-5%)); Neoplasm (Occasional (29-5%)); Otitis media (Occasional (29-5%)); Recurrent aphthous stomatitis (Occasional (29-5%)); Recurrent gastroenteritis (Occasional (29-5%)); Recurrent mycobacterial infections (Occasional (29-5%)); Recurrent viral infections (Occasional (29-5%)); Skin rash (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 recessive

Frequency and the population described

From: Orphanet

Point prevalence: Unknown; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing T-B-NK+ severe combined immunodeficiency due to DCLRE1C 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.

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 T-B-NK+ severe combined immunodeficiency due to DCLRE1C 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.