Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation

Definition:

Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation is a syndrome associated with T and B cell-combined lymphocytopenia, growth retardation, microcephaly, and increased cellular radiosensitivity. Mutations in human NHEJ1 can lead to lymphocytopenia due to its role in V(D)J recombination in the immune system. This disease shows features common with the ones observed in LIG4 deficiency or Nijmegen breakage syndrome.

References:

[1]. Dietke Buck, et al. Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 2006 Jan 27;124(2):287-99. [Content Brief]

[2]. Michal Schwartz, et al. Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. PLoS One. 2009;4(2):e4516. [Content Brief]

[3]. Peter Ahnesorg, et al. XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell. 2006 Jan 27;124(2):301-13. [Content Brief]

[4]. Véronique Dutrannoy, et al. Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype. Hum Mutat. 2010 Sep;31(9):1059-68. [Content Brief]

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