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

mutation in NHEJ1

Also Known As:

NHEJ1 Syndrome; SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, and Sensitivity to Ionizing Radiation due to NHEJ1 Deficiency; SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation; Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
2.	Microcephaly
3.	LIG4 Syndrome

Experts

1.	Chrzanowska, Krystyna H: 1 article (02/2012)
2.	Dembowska-Bagińska, Bożenna: 1 article (02/2012)
3.	Digweed, Martin: 1 article (02/2012)
4.	Gregorek, Hanna: 1 article (02/2012)
5.	Kalina, Maria A: 1 article (02/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation:

1.	DNA Ligase ATPIBA 02/28/2012 - "Microcephaly and immunodeficiency are common to DNA ligase IV deficiency (LIG4 syndrome) and severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation due to NHEJ1 deficiency (NHEJ1 syndrome). "