Primary Immunodeficiency Diagnoses seen in Patients with Chronic Lung Disease: Findings from the USIDNET Registry

Abstract

In patients with chronic lung disease (CLD), a diagnosis of underlying primary immunodeficiency (PID) can have unique implications on evaluation and management. It is important to recognize the full spectrum of PID diagnoses that can present with CLD. The USIDNET Registry was queried for patients with chronic obstructive pulmonary disease (COPD) and interstitial lung disease (ILD). Demographics, diagnoses, diagnosis dates, infections, immunology tests, and treatments were extracted. There were 116 patients (median age 22 years, range 0-81) with reported ILD (90.5%, 105/116) and COPD (20.7%, 24/116). Both ILD and COPD were reported in 11.2% (13/116). PIDs most commonly reported with ILD were common variable immunodeficiency (CVID) (56.2%, 59/105), severe combined immunodeficiency (11.4%, 12/105), and chronic granulomatous disease (CGD) (7.6%, 8/105). Chronic mucocutaneous candidiasis (CMC), Hyper-IgE Syndrome (HIES), and PIK3CD disorder were reported in 2.9% (3/105); autoimmune lymphoproliferative syndrome, GATA2 deficiency, hypogammaglobulinemia, IL-10 mutation, X-linked agammaglobulinemia in 1.9% (2/105); and ataxia-telangiectasia, CTLA4 deficiency, DiGeorge Syndrome, Hyper-IgM syndrome in 1.0% (1/105). ILD diagnosis preceded or coincided with PID diagnosis in 29.5% (31/105). PIDs commonly reported with COPD were CVID (37.5%, 9/24), HIES (16.7%, 4/24), and PIK3CD disorder (8.3%, 2/24). CGD, CMC, combined immunodeficiency, GATA2 deficiency, and hypogammaglobulinemia were reported in 4.2% (1/24). COPD diagnosis preceded or coincided with PID diagnosis in 25.0% (6/24). CLD was associated with a range of PID diagnoses. Importantly, PID was diagnosed after or at time of CLD diagnosis in 29.3% (34/116) of patients, providing support that immune evaluation may be prudent in CLD patients with frequent infections.