Childhood-onset Takayasu arteritis and immunodeficiency: case-based review

Area of Science:

• Immunology
• Rheumatology
• Pediatrics

Background:

• Takayasu arteritis (TAK) is a rare large-vessel vasculitis.
• Primary immunodeficiencies (PIDs) are a diverse group of genetic disorders affecting the immune system.
• The co-occurrence of TAK and PID is exceptionally rare.

Observation:

• Two pediatric cases of childhood-onset TAK (c-TAK) with primary immunodeficiency are presented: one with lipopolysaccharide-sensitive beige-like anchor (LRBA) deficiency and another with X-linked severe combined immunodeficiency (X-linked SCID).
• Literature review identified 17 additional cases of TAK in patients with various immunodeficiencies, including HIV, Wiskott-Aldrich syndrome, idiopathic CD4+ T lymphocytopenia, common variable immunodeficiency disorder (CVID), and STAT1 gain-of-function mutation.
• Clinical presentations included hypertension, elevated acute phase reactants, weakness, and weight loss, with imaging confirming vasculitis of the aorta and its branches.

Findings:

• The study highlights a rare association between Takayasu arteritis and primary immunodeficiency in both pediatric and adult populations.
• Common presenting symptoms like hypertension, elevated inflammatory markers, and constitutional symptoms may indicate underlying vasculitic conditions in patients with immunodeficiency.
• Specific immunodeficiencies identified include LRBA deficiency, X-linked SCID, HIV, Wiskott-Aldrich syndrome, idiopathic CD4+ T lymphocytopenia, CVID, and STAT1 gain-of-function mutations.

Implications:

• Clinicians should maintain a high index of suspicion for Takayasu arteritis in patients diagnosed with primary immunodeficiency, especially those presenting with suggestive symptoms.
• Early recognition and diagnosis of c-TAK in immunodeficient children can lead to timely intervention and potentially better outcomes.
• This review underscores the complex interplay between immune dysregulation and autoimmune/autoinflammatory conditions, necessitating a comprehensive diagnostic approach.