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Summary
SEVERE COMBINED IMMUNODEFICIENCY (SCID)
183660

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
autosomal recessive
X-chromosomal
TREC assay identifies infants with SCID and other causes of severe T cell lymphopenia
symptoms
alopecia
anorexia
arthritis
dermatitis
diarrhea
failure to thrive
fever
infections (respiratory tract/system)
infections (severe or recurrent)
onset, childhood
onset, infancy
onset, neonatal
pneumonia
short stature
skin rash, eczematous or seborrhoic
laboratory finding
Cytosine mmol/mol Creaurine
Literature
Taylor RW,et al.Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesJAMA312168-772014
Becker L,et al.MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathyPLoS One912e1149182014
Tischner C,et al.MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary interventionHum Mol Genet2482247-22662015
Bursle C,et al.COXPD9 an Evolving Multisystem Disease Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial NephritisJIMD Rep340105-1092017
Baruffini E,et al.MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastHum Mutat34111401-15092013
Mazurova S,et al.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literatureCardiol Young275936-9442017
Goetz A,et al.Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathyAm J Hum Genet885635-6422011
Martin MA,et al.The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndromeClin Genet91146-532017