Researchers found that 15.9% and 5.1% of patients with primary immunodeficiency diseases (PIDs) present with autoimmune and autoinflammatory manifestations, respectively.

“It is important to recognize association between autoimmunity, autoinflammation, and PID, which in the future could be useful for increased awareness and early diagnosis for these diseases,” the authors wrote in the journal Allergologia et Immunopathologia.

Among the most common autoimmune diseases identified in patients with PID were Addison’s disease, hypoparathyroidism, and autoimmune hemolytic anemia (AIHA). Cold agglutinin disease (CAD) is a type of AIHA.

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Autoimmune manifestations were mostly (55%) reported after PID diagnosis. Most (69.5%) patients developed 1 manifestation, while others patients developed either 2 (24.5%) or ≥3 (6%).

Autoimmune manifestations were mainly observed in patients with immune dysregulation (23/30), defects of innate immunity (5/24), combined immunodeficiency with associated or syndromic features (13/101), predominantly antibody deficiencies (18/143), immunodeficiencies affecting cellular and humoral immunity (6/68), autoinflammatory disorders (3/22), and congenital defects of phagocyte number or function (1/45).

Other diseases included autoimmune enteropathy, idiopathic thrombocytopenic purpura, autoimmune cytopenia, juvenile idiopathic arthritis, vitiligo, type 1 diabetes mellitus, skin vasculitis, dermatitis, Crohn’s disease, alopecia, autoimmune hepatitis, autoimmune thyroiditis, chilblain vasculitis, systemic lupus erythematosus, psoriasis, myasthenia gravis, celiac disease, dermatomyositis, scleroderma, and central vasculitis.

Read more about CAD differential diagnosis

Autoinflammatory manifestations included hyperimmunoglobulin D syndrome, Aicardi–Goutieres syndrome 1, adenosine deaminase 2 deficiency, Blau syndrome, tumor necrosis factor receptor-associated periodic syndrome, and autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation.

The retrospective study enrolled 433 patients from Turkey with 60 different PIDs.

“Autoimmunity might be a clue to underlying immune dysregulation during the evaluation of a patient with severe and recurrent infections,” the authors said.


Özcan D, Serbes M, Kışla Ekinci RM, et al. Experience of autoimmune and autoinflammatory diseases in a Turkish pediatric cohort with primary immunodeficiencies. Allergol Immunopathol (Madr). 2021;49(6):1-7. doi:10.15586/aei.v49i6.450