autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C (aandoening) |
| autosomaal recessieve T-cel negatieve B-cel positieve ernstige gecombineerde immunodeficiëntie door deficiëntie van tyrosinefosfatasereceptor type C |
| autosomaal recessieve T-cel negatieve B-cel positieve SCID door CD45-deficiëntie
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| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD45 deficiency |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to protein tyrosine phosphatase receptor type C deficiency
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| A rare monogenic primary immunodeficiency disorder with characteristics of lack of functional peripheral T lymphocytes resulting in early-onset severe respiratory infections and failure to thrive. Caused by homozygous or compound heterozygous mutation on the CD45 gene on chromosome 1q31. |