NAVLE Hemic and Lymphatic

Equine Immune Deficiency Syndromes – NAVLE Study Guide

Immune deficiency syndromes in horses represent a group of disorders characterized by dysfunction or absence of critical components of the immune system.

Overview and Clinical Importance

Immune deficiency syndromes in horses represent a group of disorders characterized by dysfunction or absence of critical components of the immune system. These conditions result in increased susceptibility to infections and are important differentials in foals and young horses presenting with recurrent or persistent infections that fail to respond to conventional therapy. Understanding these syndromes is essential for the NAVLE, as they represent both diagnostic challenges and opportunities for genetic counseling in breeding programs.

Primary immunodeficiencies are congenital disorders where immune system components fail to develop properly, while secondary immunodeficiencies are acquired conditions resulting from external factors such as failure of passive transfer (FPT). This guide focuses on primary immune deficiency syndromes, which often have genetic bases and breed predispositions crucial for NAVLE examination questions.

Category Disorder Breed Predisposition Defect
Combined (B + T cell) Severe Combined Immunodeficiency (SCID) Arabian, Part-Arabian DNA-PK gene mutation
Combined + Anemia Foal Immunodeficiency Syndrome (FIS) Fell Pony, Dales Pony, Gypsy Cob SLC5A3 gene mutation
Humoral (B cell only) Selective IgM Deficiency Arabian, Quarter Horse Unknown (suspected genetic)
Humoral Agammaglobulinemia Thoroughbred, Standardbred, QH (males) B cell stem cell defect (likely X-linked)
Humoral Transient Hypogammaglobulinemia No breed predisposition Delayed Ig production
Humoral (Late-onset) Common Variable Immunodeficiency (CVID) Multiple breeds (adults) B cell depletion/dysfunction

Classification of Equine Immunodeficiency Disorders

High-YieldWhen evaluating a foal with recurrent infections, always rule out failure of passive transfer (FPT) first by checking serum IgG at 18-24 hours of age. FPT (serum IgG less than 800 mg/dL) is FAR more common than primary immunodeficiencies and is treatable with plasma transfusion.
Pathogen Type Organism Clinical Significance
Viral Equine adenovirus Most common cause of death; severe bronchopneumonia
Bacterial Rhodococcus equi Pyogranulomatous pneumonia
Fungal Pneumocystis carinii (jirovecii) Interstitial pneumonia; hallmark of immunodeficiency
Protozoal Cryptosporidium parvum Severe, intractable diarrhea

Severe Combined Immunodeficiency (SCID)

Pathophysiology

SCID is an autosomal recessive inherited condition affecting Arabian and part-Arabian horses. The disease results from a 5-base pair deletion in the DNA-dependent protein kinase catalytic subunit (DNA-PKcs) gene. This enzyme is essential for V(D)J recombination, the process required for generating diverse antigen receptors on B and T lymphocytes.

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