Disease #00134 (PID (Primary immunodeficiency diseases))

Official abbreviation PID
Name Primary immunodeficiency diseases
OMIM ID -
Inheritance -
Individuals reported having this disease 3
Phenotype entries for this disease 2
Associated with 10 genes ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2
Associated tissues -
Disease features -
Remarks -


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00000713 Adiratna Mat Ripen et al.(2020) F Malaysia Malay - - - PID Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive. Passed away at 10 years ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2 ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2 17 1 Nur Aisyah Athirah
00000714 Adiratna Mat Ripen et al.(2020) F Malaysia Malay - - - PID Age at presentation: 7 years, has Upper Respiratory Tract Infection, Hepatosplenomegaly, Bronchiectasis, Anaemia, digital clubbing, persistent tachypnoea, failure to thrive. Passed away at 11 years ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2 ADAM28, CD19, CD27, CD86, CR2, CTLA4, FANCA, LRBA, SDK1, STXBP2 17 1 Nur Aisyah Athirah
00000832 Intan Juliana Abd Hamid et al. (2020) - Malaysia - - - - PID - BTK, CD19, CYBB, IL2RG, NCF1, NLRC4, RAB27A, TTC7A, WAS BTK, CD19, CYBB, IL2RG, NCF1, NLRC4, RAB27A, TTC7A, WAS 15 1 Noorzalifah Binti Mazuki
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