Primary Ciliary Dyskinesia: Do We Need to Test for Primary Immune Deficiency Routinely?

BACKGROUND

Primary Ciliary Dyskinesia (PCD) and predominantly antibody deficiencies (PAD) are among the important causes of recurrent respiratory tract infections from childhood and require different treatment strategies. The primary aim of this study was to investigate the coexistence of PCD and PAD in a cohort of patients diagnosed with PCD at a tertiary care hospital. Our secondary aim was to determine the association between the ultrastructural phenotype and the type of immune disorder.

METHODS

Sixty-two patients with PCD were enrolled in the study. Complete blood count, serum immunoglobulin levels, isohemagglutinin levels, serum IgG subgroups, and lymphocyte subgroups were evaluated. PAD was defined as a serum immunoglobulin level more than 2 SDs below the age-adjusted normal mean. Patients with an immunological abnormality are labeled Group 1, and those with normal immunological results are labeled Group 2.

RESULTS

The mean age was 12.8 ( ± 5.8) years, with an equal male-to-female ratio. Twenty-six patients (41.9%) exhibited abnormal results during the immunological evaluation (Group 1). These immunological abnormalities included lymphopenia, a reversed CD4/CD8 ratio, lymphocyte subgroup deficiencies, and serum immunoglobulin levels outside the normal range. There was no significant difference between the groups in terms of having pulmonary exacerbations in the previous year (38% vs. 38%, p = 0.97), mean ppFEV1 (83.8% vs. 79.5%, p = 0.44), having chronic colonization (p = 0.75), and ultrastructural phenotype (p = 0.17). Patients with detected immunological abnormalities were taken under follow-up by the immunology department, antibiotic prophylaxis was initiated, and vaccinations were planned in some cases.

CONCLUSIONS

Routine immunological evaluation of patients diagnosed with PCD may be beneficial since individualized treatment options are present in the management of PAD.