severe combined immunodeficiency X-linked

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severe combined immunodeficiency X-linked

A form (OMIM:300400) of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterised by impairment of both humoral and cell-mediated immunity, leukopaenia, and low or absent antibody levels. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. Patients with SCIDX1 have an early onset of infections, often before 3 months of age, followed by lymphopenia, persistent pneumonitis, moniliasis, frequent rashes and death in infancy, despite treatment with gammaglobulin.

Molecular pathology
Defects in IL2RG, which encodes the gamma chain, an important signalling component of many IL receptors (e.g., IL-2, IL-4, IL-7 and IL-21), cause X-linked severe combined immunodeficiency (XSCID/SCIDX1).
References in periodicals archive ?
Mustang has partnered with top medical institutions to advance the development of CAR T and CRISPR/Cas9-enhanced CAR T therapies across multiple cancers, as well as a lentiviral gene therapy for XSCID. Mustang is registered under the Securities Exchange Act of 1934, as amended, and files periodic reports with the U.S.
This level of bone marrow stem cell correction has not been achieved in prior gene therapy studies in XSCID infants.
'Receiving RMAT designation by the FDA is an important step forward and should speed up the process of getting patients access to lentiviral gene therapy for XSCID,' said Stephen Gottschalk, M.D., chair of the St.
Patients with XSCID have no T cells or natural killer cells.
Jude), which demonstrated the curative potential of MB-107, a lentiviral gene therapy for X-linked severe combined immunodeficiency (XSCID).
Jude data from a Phase 1/2 clinical trial of a lentiviral gene therapy for the treatment of newly diagnosed infants under two years old with XSCID. Data demonstrated that the lentiviral gene therapy achieved normalization of T-cell numbers in all eight newly diagnosed infants with XSCID to date and disseminated infections resolved completely in all affected infants.