PMID- 33059947
OWN - NLM
STAT- MEDLINE
DCOM- 20211005
LR  - 20221207
IS  - 1872-7131 (Electronic)
IS  - 0387-7604 (Linking)
VI  - 43
IP  - 2
DP  - 2021 Feb
TI  - Immunodeficiency in a patient with microcephalic osteodysplastic primordial 
      dwarfism type I as compared to Roifman syndrome.
PG  - 337-342
LID - S0387-7604(20)30270-9 [pii]
LID - 10.1016/j.braindev.2020.09.007 [doi]
AB  - 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_023343.1:n.[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.
CI  - Copyright (c) 2020 The Japanese Society of Child Neurology. Published by Elsevier 
      B.V. All rights reserved.
FAU - Hagiwara, Hidetoshi
AU  - Hagiwara H
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan.
FAU - Matsumoto, Hiroshi
AU  - Matsumoto H
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan. Electronic address: matumoto@ndmc.ac.jp.
FAU - Uematsu, Kenji
AU  - Uematsu K
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan.
FAU - Zaha, Kiyotaka
AU  - Zaha K
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan.
FAU - Sekinaka, Yujin
AU  - Sekinaka Y
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan.
FAU - Miyake, Noriko
AU  - Miyake N
AD  - Department of Human Genetics, Yokohama City University Graduate School of 
      Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
AD  - Department of Human Genetics, Yokohama City University Graduate School of 
      Medicine, Fukuura 3-9, Kanazawa-ku, Yokohama 236-0004, Japan.
FAU - Nonoyama, Shigeaki
AU  - Nonoyama S
AD  - Department of Pediatrics, National Defense Medical College Hospital, 3-2 Namiki, 
      Tokorozawa, Saitama 359-8513, Japan.
LA  - eng
PT  - Case Reports
DEP - 20201012
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
RN  - 0 (RNA, Small Nuclear)
RN  - 0 (RNU4ATAC RNA, human)
RN  - Microcephalic osteodysplastic primordial dwarfism, type 1
RN  - Roifman syndrome
SB  - IM
MH  - Adolescent
MH  - Alleles
MH  - Cardiomyopathies/*genetics/physiopathology
MH  - Dwarfism/*genetics/physiopathology
MH  - Female
MH  - Fetal Growth Retardation/*genetics/physiopathology
MH  - Humans
MH  - Mental Retardation, X-Linked/*genetics/physiopathology
MH  - Microcephaly/*genetics/physiopathology
MH  - Mutation
MH  - Osteochondrodysplasias/*genetics/physiopathology
MH  - Pedigree
MH  - Phenotype
MH  - Primary Immunodeficiency Diseases/*genetics/physiopathology
MH  - RNA, Small Nuclear/*genetics
MH  - Retinal Diseases/*genetics/physiopathology
MH  - Exome Sequencing
OTO - NOTNLM
OT  - Corpus callosum dysgenesis
OT  - Immunodeficiency
OT  - Microcephalic osteodysplastic primordial dwarfism type I (MOPD I)
OT  - Pachygyria
OT  - RNU4ATAC
OT  - Roifman syndrome
EDAT- 2020/10/17 06:00
MHDA- 2021/10/06 06:00
CRDT- 2020/10/16 05:37
PHST- 2020/03/31 00:00 [received]
PHST- 2020/09/08 00:00 [revised]
PHST- 2020/09/13 00:00 [accepted]
PHST- 2020/10/17 06:00 [pubmed]
PHST- 2021/10/06 06:00 [medline]
PHST- 2020/10/16 05:37 [entrez]
AID - S0387-7604(20)30270-9 [pii]
AID - 10.1016/j.braindev.2020.09.007 [doi]
PST - ppublish
SO  - Brain Dev. 2021 Feb;43(2):337-342. doi: 10.1016/j.braindev.2020.09.007. Epub 2020 
      Oct 12.