Disease: Infection by Pneumocystis jirovecii (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0276908
Disease: Infection by Pneumocystis jirovecii (disorder)
Infection by Pneumocystis jirovecii (disorder) 		0.010 Biomarker phenotype BEFREE We present a patient with calcium release-activated calcium channel gene (ORAI1) deficiency and normal T-cell receptor excision circle numbers observed after diagnosis at the age of 14 months who suffered from disseminated fatal cytomegalovirus and Pneumocystis jirovecii infection, demonstrating a potential pitfall of the current newborn screening program. 29613974 2019