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| Additional findings_Paediatric v0.38 | PIK3CD | Zornitza Stark Marked gene: PIK3CD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.38 | PIK3CD | Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.38 | PIK3CD | Zornitza Stark Classified gene: PIK3CD as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.38 | PIK3CD | Zornitza Stark Gene: pik3cd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Additional findings_Paediatric v0.20 | PIK3CD |
Lilian Downie gene: PIK3CD was added gene: PIK3CD was added to Newborn Screening_BabySeq. Sources: Expert list Mode of inheritance for gene: PIK3CD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIK3CD were set to Immunodeficiency 14, MIM # 615513 Review for gene: PIK3CD was set to GREEN Added comment: Primary immunodeficiency, characterized by onset of recurrent sinopulmonary and other infections in early childhood. Laboratory studies show defects in both B- and T-cell populations, with an inability to control infection with Epstein Barr-virus (EBV) and cytomegalovirus (CMV). Patient CD8+ T cells are skewed toward differentiation and senescence. Many patients develop lymphadenopathy, mucosal lymphoid aggregates, and/or increased serum IgM. There is also an increased susceptibility to B-cell lymphomas . Not reviewed by Babyseq, included in NCNEXUS list. Treatable Sources: Expert list |
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