RESUMO
BACKGROUND AND OBJECTIVE: Common variable immunodeficiency (CVID) is considered the most symptomatic type of inborn errors of immunity in humans. Along with infectious complications, which have numerous consequences, non-infectious complications are also a major challenge among CVID patients. METHODS: All registered CVID patients in the national database were included in this retrospective cohort study. Patients were divided into two groups based on the presence of B-cell lymphopenia. Demographic characteristics, laboratory findings, non-infectious organ involvements, autoimmunity, and lymphoproliferative diseases were evaluated. RESULTS: Among 387 enrolled patients, 66.4% were diagnosed with non-infectious complications; however, 33.6% had only infectious presentations. Enteropathy, autoimmunity, and lymphoproliferative disorders were reported in 35.1%, 24.3%, and 21.4% of patients, respectively. Some complications, including autoimmunity and hepatosplenomegaly, were reported to be significantly higher among patients with B-cell lymphopenia. Among organ involvement, dermatologic, endocrine and musculoskeletal systems were predominantly affected in CVID patients with B-cell lymphopenia. Among autoimmune manifestations, the frequency of rheumatologic, hematologic, and gastrointestinal autoimmunity was reported to be higher compared to other types of autoimmunity independent from the B cell-lymphopenia. Furthermore, hematological cancers, particularly lymphoma, were slightly introduced as the most common type of malignancy. Meanwhile, the mortality rate was 24.5%, and respiratory failure and malignancies were reported as the most common cause of death in our patients without significant differences between the two groups. CONCLUSION: Considering that some of the non-infectious complications might be associated with B-cell lymphopenia, therefore, regular patient monitoring and follow-up along with proper medications (besides immunoglobulins replacement therapy) are highly recommended to prevent further sequels and increase the patients' quality of life.
RESUMO
Summary: Background. Inborn errors of immunity (IEIs) are a group of heterogeneous disorders with inherited faults in the immune system that increase susceptibility to infections, malignancies, lymphoproliferation, and autoimmune/autoinflammatory disorders. Methods. We retrospectively studied the demographic characteristics, clinical features, and immunological profiles of the 90 IEIs patients, who were diagnosed and classified according to the European Society for Immunodeficiencies (ESID) and International Union of Immunological Societies (IUIS) criteria from July 2010 to June 2021. The study was carried out in the Non-communicable Diseases Research Center, Imam Ali Hospital, Alborz, Iran. Results. Within a period of 11 years, 53 (58.9%) males and 37 (41.1%) females were diagnosed and followed up for 20 IEI disorders. The median (IQR) age of onset, age of clinical diagnosis and diagnostic delay was 0.7 (0.08-2.0), 3.18 (1.0-8.0) and 1.5 (0.17-5.0) years, respectively. Twelve patients (36.4%) had a positive family history of IEI, and the majority of patients (84.5%) had recurrent infections. Pneumonia (51.7%) was the most common clinical manifestation among IEI patients, followed by skin complications (46.2%). The most frequently diagnosed IEI was immunoglobulin A deficiency (IgAD) (14.4%) and severe combined immunodeficiency (SCID) (11.1%). Predominantly antibody deficiencies group (36.7%) was the most common category, followed by combined immunodeficiencies with associated or syndromic features group (27.8%). Conclusions. IEIs have different patterns within populations with high consanguinity. There is a need to search for underlying genetic and epigenetic factors in most common IEIs in Alborz.
