Cadherin 17 mutation associated with leaky severe combined immune deficiency is corrected by HSCT.
نویسندگان
چکیده
CDH17 is expressed in human thymic epithelial cells.CDH17 mutations may be a rare cause of leaky severe combined immune deficiency that can be corrected by HSCT.
منابع مشابه
Atypical Omenn Syndrome Due to RAG2 Gene Mutation, a Case Report
Severe Combined Immunodeficiency (SCID), characterized by a profound decrease in both the number and function of T cells, is related to more than 20 different mutations. Recombination-activating gene (RAG) 1 and 2 seem to be two of the most common forms presenting with various manifestations, including typical SCID, Omenn syndrome (OS), atypical SCID (AS), or delayed onset combined immunodefici...
متن کاملClinical, Immunological, and Molecular Findings in Five Patients with Major Histocompatibility Complex Class II Deficiency from India
Major histocompatibility complex (MHC) class II deficiency is a rare autosomal recessive form of primary immunodeficiency disorder (PID) characterized by the deficiency of MHC class II molecules. This deficiency affects the cellular and humoral immune response by impairing the development of CD4+ T helper (Th) cells and Th cell-dependent antibody production by B cells. Affected children typical...
متن کاملAbnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency
Lymphostromal cross-talk in the thymus is essential to allow generation of a diversified repertoire of T lymphocytes and to prevent autoimmunity by self-reactive T cells. Hypomorphic mutations in genes that control T cell development have been associated with immunodeficiency and immune dysregulation both in humans and in mice. We have studied T cell development and thymic stroma architecture a...
متن کاملSpontaneous development of neoplasms in severe combined immunodeficient mice
Severe combined immunodeficient (SCID) mice lack functional T and B cells. This renders them useful for implantation of human cells. The absence of immune cells, however, makes severe combined immunodeficient mice highly susceptible to infections and spontaneous development of malignancies; 2 of 114 CB17/Icr-Prkdc(scid) /IcrIcoCrl severe combined immunodeficient mice aged 9 and 10 months develo...
متن کاملChronic active Epstein–Barr virus infection as the initial symptom in a Janus kinase 3 deficiency child
RATIONALE With the progress of sequencing technology, an increasing number of atypical primary immunodeficiency (PID) patients have been discovered, including Janus kinase 3 (JAK3) gene deficiency. PATIENT CONCERNS We report a patient who presented with chronic active Epstein-Barr virus (CAEBV) infection but responded poorly to treatment with ganciclovir. DIAGNOSES Next-generation sequencin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Blood advances
دوره 1 23 شماره
صفحات -
تاریخ انتشار 2017