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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...
Humoral Immune Responses01:36

Humoral Immune Responses

Overview
Pedigree Analysis01:35

Pedigree Analysis

Overview
Development of Immunocompetence01:22

Development of Immunocompetence

The initiation of cell-mediated immunity can be observed as early as the third month of fetal growth, with active antibody-mediated immunity following approximately one month later.
The initial cells that migrate from the fetal thymus settle within the skin and epithelial tissues lining the mouth, digestive tract, and in females, the uterus and vagina. These cells, including skin-based dendritic cells, serve as antigen-presenting cells, playing a key role in T cell activation.
Subsequent T...
Cell-mediated Immune Responses01:40

Cell-mediated Immune Responses

Overview
What is the Immune System?01:38

What is the Immune System?

Overview

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Related Experiment Video

Updated: Jul 9, 2026

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR
14:14

Simultaneous Quantification of T-Cell Receptor Excision Circles (TRECs) and K-Deleting Recombination Excision Circles (KRECs) by Real-time PCR

Published on: December 6, 2014

[How to diagnose a hereditary immunodeficiency?].

Capucine Picard1

  • 1Centre d'etude des déficits immunitaires, Hôpital Necker-Enfants-malades, 75015 Paris. picardc@necker.fr

La Revue Du Praticien
|December 18, 2007
PubMed
Summary

Early diagnosis of primary immunodeficiency (PI) is crucial for patient outcomes. Initial tests like blood counts and immunoglobulin levels help guide further specific investigations for suspected PIs.

Area of Science:

  • Immunology
  • Clinical Diagnostics
  • Pediatric Medicine

Background:

  • Primary immunodeficiency (PI) necessitates prompt identification for improved patient prognosis and treatment efficacy.
  • Severe, recurrent, or unusual infections are key indicators warranting initial diagnostic evaluations for PI.
  • Early detection significantly impacts long-term patient management and reduces complications associated with PIs.

Purpose of the Study:

  • To outline the essential initial diagnostic steps for primary immunodeficiency.
  • To emphasize the role of basic laboratory tests in guiding PI diagnosis.
  • To highlight the integration of clinical findings with laboratory results for targeted investigations.

Main Methods:

  • Review of diagnostic pathways for primary immunodeficiency.

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  • Analysis of initial laboratory investigations including complete blood count, serum immunoglobulin levels, and serological testing.
  • Correlation of clinical presentation and medical history with laboratory findings.

    • Main Results:

    • Simple investigations such as blood cell count, serum immunoglobulin levels, and post-vaccination/infection serologies are effective in directing the diagnosis of PI.
    • A combination of medical history, clinical examination, and initial laboratory results enables the selection of more specific tests.
    • These initial steps facilitate the identification of the specific type of primary immunodeficiency suspected.

    Conclusions:

    • Early identification of primary immunodeficiency through basic investigations is vital for effective patient management.
    • A systematic approach combining clinical assessment and initial laboratory tests is key to diagnosing PIs.
    • Timely diagnosis and appropriate workup based on initial findings lead to better patient outcomes.