Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome

Microcephalic osteodysplastic primordial dwarfism type I (MOPD I, also known as Taybi-Linder syndrome) is a rare genetic disorder associated with severe intrauterine growth retardation, short stature, microcephaly, brain anomalies, stunted limbs, and early mortality. RNU4ATAC, the gene responsible for this disorder, does not encode a protein but instead the U4atac small nuclear RNA (snRNA), a crucial component of the minor spliceosome. Roifman syndrome is an allelic disorder of MOPD I that is characterized by immunodeficiency complications.

Source: Brain and Development - October 12, 2020 Category: Neurology Authors: Hidetoshi Hagiwara, Hiroshi Matsumoto, Kenji Uematsu, Kiyotaka Zaha, Yujin Sekinaka, Noriko Miyake, Naomichi Matsumoto, Shigeaki Nonoyama Tags: Case Report Source Type: research