About: Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients

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About: Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients Goto Sponge NotDistinct Permalink

An Entity of Type : schema:ScholarlyArticle, within Data Space : covidontheweb.inria.fr associated with source document(s)

Attributes	Values
type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
Creator	Al-Mousa, Hamoud Alsum, Zobaida Al-Dhekri, Hasan Al-Muhsen, Saleh Al-Saud, Bandar Alazami, Anas Aljohani, Amal Alrogi, Fayhan Arnaout, Rand Mohammed, Reem Nicolas-Jilwan, Manal
Source	PMC
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.
has issue date	2020-08-27(xsd:dateTime)
bibo:doi	10.1007/s10875-020-00851-1
has license	no-cc
sha1sum (hex)	b45bc221911632b45820130f4b541a9084b0f886
schema:url	https://doi.org/10.1007/s10875-020-00851-1
resource representing a document's title	Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
has PubMed Central identifier	PMC7449781
schema:publication	J Clin Immunol
resource representing a document's body	covid:b45bc221911632b45820130f4b541a9084b0f886#body_text
is schema:about of	named entity 'rare' named entity 'TFRC' named entity 'REVIEW OF' named entity 'DUE TO' named entity 'PHENOTYPES' named entity 'COHORT' named entity 'IS A' named entity 'CLINICAL' named entity 'mutation' named entity 'gene' named entity '2015' named entity 'monogenic disorder' named entity 'Immunodeficiency' named entity 'Combined' named entity 'gene' named entity 'retrospective review' named entity 'Combined immunodeficiency' named entity 'transferrin receptors' named entity 'Combined Immunodeficiency' named entity 'patients' named entity 'peripheral blood mononuclear cells' named entity 'endosome' named entity 'optic atrophy' named entity 'thrombocytopenia' named entity 'EBV' named entity 'IgM' named entity 'hypogammaglobulinemia' named entity 'endothelial cells' named entity 'Ion' named entity 'platelets' named entity 'MCV' named entity 'iron' named entity 'Becton Dickinson' named entity 'membrane glycoproteins' named entity 'flow cytometer' named entity 'transferrin' named entity 'Transferrin receptors' named entity 'IgG' named entity 'Sanger sequencing' named entity 'NK cells' named entity 'developmental delay' named entity 'MRI' named entity 'TfR' named entity 'cortical' named entity 'PHA' named entity 'KLRG1' named entity 'pancytopenia' named entity 'Ion' named entity 'bone marrow aspirate' named entity 'signal transduction' named entity 'IgM' named entity 'peripheral lymphoid organs' named entity 'gene mutations' named entity 'lymphopenia' named entity 'phytohemagglutinin' named entity 'PCR' named entity 'neurons' named entity 'failure to thrive' named entity 'hemopoietic stem cells' named entity 'iron' named entity 'exome' named entity 'TfR' named entity 'iron' named entity 'KLRG1' named entity 'immunodeficiency' named entity 'missense mutation' named entity 'receptor' named entity 'Ion' named entity 'TfR' named entity 'Ficoll' named entity 'HFE' named entity 'TFRC' named entity 'flow cytometer'

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