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Related Concept Videos

Immunodeficiency Diseases01:25

Immunodeficiency Diseases

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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.
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Primary lymphoid organs are pivotal in the formation, development, and maturation of lymphocytes, the white blood cells that serve as the backbone of our immune system. This crucial function underscores their fundamental role in maintaining our overall health and immunity. The two primary lymphoid organs of prime importance are the red bone marrow and the thymus.
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Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
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The ability of induced pluripotent stem cells or iPSCs to differentiate into most body cell types has stimulated repair and regenerative medicine research over the past few decades. iPSC-derived blood cells, hepatocytes, beta islet cells, cardiomyocytes, neurons, and other cell types can repair injuries or regenerate damaged tissue in diseases such as diabetes and neurodegenerative disorders.
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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.

Aziz Bousfiha1, Leïla Jeddane2,3, Capucine Picard4,5

  • 1Laboratory of Clinical Immunology, Inflammation and Allergy LICIA, Faculty of Medicine and Pharmacy, King Hassan II University, Casablanca, Morocco. profbousfiha@gmail.com.

Journal of Clinical Immunology
|December 12, 2017
PubMed
Summary
This summary is machine-generated.

The International Union of Immunological Societies (IUIS) offers a revised 2017 phenotypic classification for inborn errors of immunity (IEI). This user-friendly system aids clinicians in diagnosing diverse conditions like infections, allergies, and autoimmune disorders.

Keywords:
ClassificationIUISInborn errors of immunityPhenotypicPrimary immunodeficiencies

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Area of Science:

  • Immunology
  • Genetics
  • Clinical Medicine

Background:

  • The International Union of Immunological Societies (IUIS) has classified inborn errors of immunity (IEI) biennially since the 1990s.
  • Previous classifications were comprehensive for researchers but not clinician-friendly for bedside use.
  • A phenotypic classification was introduced in 2013 to improve clinical utility.

Purpose of the Study:

  • To present the revised 2017 phenotypic classification of inborn errors of immunity.
  • To provide a more user-friendly classification for clinicians managing patients with IEI.
  • To align with the accompanying 2017 IUIS Inborn Errors of Immunity Committee classification.

Main Methods:

  • The study is based on the 2017 IUIS Inborn Errors of Immunity Committee classification.
  • It builds upon the established framework of IEI classification.
  • The focus is on phenotypic presentation for clinical application.

Main Results:

  • The revised 2017 classification categorizes 320 single-gene inborn errors of immunity.
  • These IEI manifest in diverse phenotypes including infection, malignancy, allergy, autoimmunity, and auto-inflammation.
  • The phenotypic approach enhances clinical applicability.

Conclusions:

  • The 2017 phenotypic classification offers a more accessible and practical tool for clinicians.
  • This revised classification aids in the diagnosis and management of a wide spectrum of inborn errors of immunity.
  • It represents an evolution in IEI classification for improved patient care.