Primary Immunodeficiency / Inborn Errors of Immunity

Causes & Risk Factors

Primary immunodeficiencies result from genetic abnormalities affecting immune system development or function:

•  Inherited (genetic) defects affecting one or more components of the immune system — antibody production, cellular immunity, complement, or innate immune function.

•  Family history of similar illness or known primary immunodeficiency increases likelihood of an inherited condition.

•  Consanguinity (blood relationship between parents) can increase risk of certain recessively inherited immunodeficiencies.

•  Some primary immunodeficiencies present in infancy or early childhood, while others may not become apparent until later in life.

Symptoms & When to Test

Primary immunodeficiency should be considered when there is a distinctive pattern of infections, rather than occasional common infections that most people experience.

•  Recurrent infections

•  Severe infections, beyond what would typically be expected

•  Unusual or opportunistic infections not typical in an immunocompetent person

•  Persistent infections that do not fully resolve

•  Poor response to standard treatment

•  Recurrent infections requiring hospitalization

•  Family history of similar illness or known immunodeficiency

When Should You Consider Testing?

Evaluation is generally appropriate when a patient's infection pattern is unusually frequent, severe, persistent, caused by unusual organisms, difficult to treat, or associated with a family history of similar illness — rather than for occasional, typical infections.

Why Tests Are Combined

Because primary immunodeficiency can affect different parts of the immune system — antibody production, cellular immunity, complement, or other pathways — a stepwise combination of CBC, immunoglobulins, IgG subclasses, complement testing, lymphocyte/immune-cell assessment, and specific antibody testing helps narrow down which part of the immune system is affected.

Genetic testing is typically added once the clinical and initial laboratory pattern suggests a specific type or category of immunodeficiency, since genetic testing can then be targeted rather than broadly screening hundreds of possible genes without clinical direction.

This stepwise diagnostic approach reflects the genuine complexity and diversity of primary immunodeficiencies — hundreds of distinct conditions are now recognized, each with different underlying mechanisms, which is why a single test cannot screen for all of them simultaneously.

Tests Available at NPL

Most allergy and immunology blood tests do not require fasting. However, some tests ordered at the same time may have specific preparation requirements. Please follow the instructions provided by your doctor or NPL.

Home Sample Collection

NPL offers convenient home sample collection for Primary Immunodeficiency / Inborn Errors of Immunity blood tests, so you don't need to visit a lab in person.

→ Book your test online, via the NPL app, or by calling +977 1 5970147 and select a convenient time slot for home sample collection.

→ A certified and experienced NPL phlebotomist visits your home at the scheduled time, following strict hygiene and safety protocols.

→ Your sample is transported under controlled, monitored conditions to NPL's NABL ACCREDITED UNDER ISO15189:2012laboratory for processing.

→ Your digital report is delivered securely to your phone or email, along with access to download and share it as needed.

When to See a Doctor

•  Recurrent infections that are unusually frequent for age

•  Severe or unusual infections

•  Persistent infections not resolving with standard treatment

•  Recurrent infections requiring hospitalization

•  Family history of primary immunodeficiency or similar unexplained illness — refer to an immunologist