The rare immune deficiencies section publishes research and reports on clinical and laboratory data pertaining to immunological disease, with an emphasis on primary immunodeficiency. Whilst welcoming any submission in this broad area, cohort reports of specific genetic diseases, detailed case reports of very rare primary immunodeficiencies, reports elucidating gene function, reports from geographic areas less represented in literature, and reports describing therapy are encouraged.
Which triggers could support timely identification of primary antibody deficiency? A qualitative study using the patient perspective
Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing s...
Citation: Orphanet Journal of Rare Diseases 2021 16:289