Loss of NHEJ1 Protein Due to a Novel Splice Site Mutation in a Family Presenting with Combined Immunodeficiency, Microcephaly, and Growth Retardation and Literature Review

ConclusionPatients presenting with CID, microcephaly, and growth retardation should be screened forNHEJ1 gene mutations. We discuss our data in the context of one of our patients who is still alive at the age of 30  years, without transplantation, and who is the longest known survivor of this disease. (Source: Journal of Clinical Immunology)

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