Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (NHEJ1-SCID)

Alias:

Cernunnos-Xlf Deficiency

Cernunnos Deficiency

Nhej1 Syndrome

Autosomal Recessive T-Cell-Negative, B Cell-Negative, Nk Cell-Positive, Severe Combined Immunodeficiency with Microcephaly, Growth Retardation and Sensitivity to Ionizing Radiation

Scid, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Immunodeficiency, Severe Combined, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation

Combined Immunodeficiency-Microcephaly-Growth Retardation-Sensitivity to Ionizing Radiation Syndrome

Severe Combined Immunodeficiency Due to Nhej1 Deficiency

Nhej1 Deficiency

Cernunnos Xlfd

Nhej1-Scid

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation, also known as cernunnos-xlf deficiency, is related to severe combined immunodeficiency and microcephaly. An important gene associated with Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation is NHEJ1 (Non-Homologous End Joining Factor 1). Affiliated tissues include cortex, and related phenotypes are microcephaly and growth delay

Related ID：

MALACARDS：SVR032

OMIM：611291