Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
Brain Dev
; 43(2): 337-342, 2021 Feb.
Article
em En
| MEDLINE
| ID: mdl-33059947
ABSTRACT
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 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. CASE REPORT The patient described herein is an 18-year-old woman exhibiting congenital dwarfism and microcephaly with structural brain anomaly. She suffered human herpesvirus 6 (HHV-6)-associated acute necrotizing encephalopathy at the age of one, thereafter resulting in severe psychomotor disabilities. Genetic analysis using gene microarray and whole-exome sequencing could not identify the cause of her congenital anomalies. However, Sanger sequencing revealed a compound heterozygous mutation within RNU4ATAC (NR_023343.1n.[50G > A];[55G > A]). Immunological findings showed decreases in total lymphocytes, CD4+ T cells, and T cell regenerative activity. Furthermore, antibodies against varicella-zoster, rubella, measles, mumps, and influenza were very low or negative despite having received vaccinations for these viruses. HHV-6 IgG antibodies were also undetected.DISCUSSION:
The patient here exhibited a marked MOPD I phenotype complicated by various immunodeficiencies. Previous studies have not demonstrated immunodeficiency comorbidities within MOPD I subjects, but this report suggests an evident immunodeficiency in MOPD I. Patients with MOPD I should be treated with one of the immunodeficiency syndromes.Palavras-chave
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Base de dados:
MEDLINE
Assunto principal:
Osteocondrodisplasias
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Doenças Retinianas
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RNA Nuclear Pequeno
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Deficiência Intelectual Ligada ao Cromossomo X
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Nanismo
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Retardo do Crescimento Fetal
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Doenças da Imunodeficiência Primária
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Microcefalia
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Cardiomiopatias
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article