Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
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ORIGINAL ARTICLE
Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients Amal H. Aljohani 1,2 & Hamoud Al-Mousa 1,3 & Rand Arnaout 1,3 & Hasan Al-Dhekri 1 & Reem Mohammed 1 & Zobaida Alsum 4 & Manal Nicolas-Jilwan 5 & Fayhan Alrogi 6 & Saleh Al-Muhsen 1,4 & Anas M. Alazami 7,8 & Bandar Al-Saud 1,3 Received: 23 June 2020 / Accepted: 19 August 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose Combined immunodeficiency (CID), due to mutations in TFRC gene that encodes the transferrin receptors (TfR1), is a rare monogenic disorder. In this study, we further characterize the clinical and immunological phenotypes in a cohort of eight patients. Methods A retrospective review of clinical and immunological features of patients diagnosed with a TFRC gene mutation between 2015 and 2019 in three tertiary centers. Results Eight patients from six unrelated families were enrolled. The patients had a median age of 7 years (4–32 years). All patients presented with recurrent sinopulmonary infections, chronic diarrhea, and failure to thrive in early life. Less common features were skin abscesses, conjunctivitis, global developmental delay, optic nerve atrophy, vitiligo, multinodular goiter, and hemophagocytic lymphohistiocytosis-like symptoms. All patients had intermittent neutropenia and 87% of the patients had recurrent thrombocytopenia. Anemia was found in 62%. All patients had hypogammaglobinemia and one had a persistent high IgM level. All patients had impaired function of T cells. The same homozygous missense mutation c.58T>C:p.Y20H, in the TFRC gene, was detected in all patients. Stem cell transplantation from matched donors was successful in two patients. Five patients did not receive stem cell transplantation, and they are on prophylactic treatment. One patient died due to severe sepsis and neurological complications. Conclusion This report provides a large cohort with a long follow up of patients with this disease. Our cohort showed variable disease severity. Keywords Primary immune deficiency . combined immunodeficiency . a mutation in TFRC . TfR1 . CD71
Introduction Transferrin receptor 1 (TfR1) is a cell surface receptor that is necessary for cellular iron uptake, by the process of receptor-
mediated endocytosis. This receptor is present in all vertebrates and is required for erythropoiesis and neurologic development [1, 2]. It acts as an essential receptor that mediates the control of iron metabolism [3]. The molecular weight of the
* Amal H. Aljohani [email protected]
4
Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia
* Bandar Al-Saud [email protected]
5
Department of Radiology, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia
6
Department of Pediatrics, King Abdullah Specialist Children’s Hospital, King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Ministry of National Guard Health
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