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

Background 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 protein but instead U4atac small nuclear RNA (snRNA), crucial component of minor spliceosome. Roifman syndrome an allelic MOPD that characterized by immunodeficiency complications. Case report The patient described herein 18-year-old woman exhibiting congenital microcephaly structural anomaly. She suffered human herpesvirus 6 (HHV-6)-associated acute necrotizing encephalopathy at age one, thereafter resulting in psychomotor disabilities. Genetic analysis using microarray whole-exome sequencing could identify cause her anomalies. However, Sanger revealed compound heterozygous mutation within RNU4ATAC (NR_023343.1:n.[50G > A];[55G A]). Immunological findings showed decreases total lymphocytes, CD4+ T cells, cell regenerative activity. Furthermore, antibodies against varicella-zoster, rubella, measles, mumps, influenza were very low or negative despite having received vaccinations these viruses. HHV-6 IgG undetected. Discussion here exhibited marked phenotype complicated various immunodeficiencies. Previous studies have demonstrated comorbidities subjects, suggests evident I. Patients should be treated one syndromes.