Title:The Clinical and Immunological Features of Patients with Primary Antibody Deficiencies
Volume: 18
Issue: 5
Author(s): Gholamreza Azizi, Yasser Bagheri, Marzieh Tavakol, Forough Askarimoghaddam, Kumars Porrostami, Hosein Rafiemanesh, Reza Yazdani, Fatemeh Kiaee, Sima Habibi, Kosar Abouhamzeh, Hamed Mohammadi, Mostafa Qorbani, Hassan Abolhassani and Asghar Aghamohammadi*
Affiliation:
- Research Center for Immunodeficiencies, Children`s Medical Center, Tehran University of Medical Sciences, Tehran,Iran
Keywords:
Primary antibody deficiencies, infection, non-infectious complication, morbidity and mortality, CVID, respiratory
tract infection.
Abstract: Background: Primary antibody deficiency (PAD) comprises a range of diseases from early
to late terminal B cells defects and is associated with the various clinical complications.
Methods: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective
cohort study and for all patients’ demographic information, clinical records and laboratory data were
collected to investigate clinical complications.
Results: The most prevalent first presentations of immunodeficiency were respiratory tract infections
in 63.5% and chronic diarrhea in 17.2%. Common variable immune deficiency (CVID) patients had a
higher diagnostic delay than class switching defect (CSD), and agammaglobulinemia. Among the noninfectious
complications, autoimmunity (26.2%), and splenomegaly (23.4%) were the most common.
Lymphadenopathy was higher in CSD patients than other PADs, while splenomegaly, hepatomegaly,
autoimmunity and bronchiectasis were more common in CVID patients than others. Atopic manifestations
were mostly recorded in patients with selective IgA deficiency. Malignancy was only reported in
5.8% of patients with CVID. There was a higher prevalence of autoimmune manifestations in CVID
comparing to other PADs.
Conclusion: PADs are relatively rare diseases and these patients have a variety of first clinical manifestations,
such as diverse infections, autoimmunity, lymphoproliferation, allergy, enteropathy and
malignancy. Practitioner’s awareness about the heterogeneous presentations of PAD disorders is poor,
therefore patients often are lately diagnosed, and they are complicated with several clinical complications
before the certain diagnosis.
