Hyper-IgE syndrome and autoimmunity in Mexican children

Area of Science:

• Immunology
• Genetics
• Rheumatology

Background:

• Hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by eczema, recurrent infections, eosinophilia, and elevated IgE.
• The autosomal recessive (AR) form of HIES is associated with an increased risk of autoimmune diseases.

Observation:

• Two cases of HIES with significant autoimmune complications are presented.
• Case 1: A patient from a consanguineous marriage developed erythema nodosum, warts, bronchiolitis obliterans, and thrombocytopenia.
• Case 2: A patient developed glomerulonephritis, end-stage renal failure, malar rash, oral ulcers, cerebral infarcts with vasculitis, and positive autoimmune markers (ANA, anti-dsDNA, antiphospholipid antibodies).

Findings:

• This study highlights the propensity for autoimmune manifestations in autosomal recessive Hyper-IgE syndrome.
• The presented cases illustrate a spectrum of severe autoimmune complications in HIES patients.

Implications:

• Managing patients with co-existing primary immunodeficiency and autoimmune diseases presents complex clinical challenges.
• Further research is needed to understand the mechanisms linking HIES and autoimmunity and to guide treatment strategies.