Clinical and Immunological Characterization of Combined Immunodeficiency Due to TFRC Mutation in Eight Patients
Amal H. Aljohani, Hamoud Al‐Mousa, Rand Arnaout, Hasan Al‐Dhekri, Reem Mohammed, Zobaida Alsum, Manal Nicolas‐Jilwan, Fayhan Alrogi, Saleh Al‐Muhsen, Anas M. Alazami, Bandar Al‐Saud
Topics & Concepts
MedicinePrimary immunodeficiencyImmunodeficiencyCohortPediatricsInternal medicineHematopoietic stem cell transplantationHemophagocytic lymphohistiocytosisRetrospective cohort studyFailure to thriveMissense mutationTransplantationCommon variable immunodeficiencyDiseaseImmunologyMutationChemistryBiochemistryAntibodyGeneImmune systemImmunodeficiency and Autoimmune DisordersBlood disorders and treatmentsPlatelet Disorders and Treatments