ISSN: 2155-9899
Nouf Khalid Hamid
Imam Abdulrahman Bin Faisal University, KSA
Scientific Tracks Abstracts: J Clin Cell Immunol
Variable refers to the heterogeneous clinical manifestations of this disorder, which can include: Recurrent infections, chronic lung disease, auto-immune disorders, also involve various segments of the gastrointestinal tract and a heightened susceptibility to lymphoma. It is a primary immunodeficiency that affects 1 in 50,000 people worldwide. It is characterized by reduced immunoglobulin serum levels and absent or impaired antibody production. The pathogenic of CVID is not known; however, there have been numerous associated laboratory findings including numerous mutations in the genes result in dysfunctional B cells. The most frequent mutations occur in the TNFRSF13B gene. Genes that have been implicated in monogenic CVID include ICOS, TNFRSF13B (TACI), TNFRSF13C (BAFF-R), TNFSF12 (TWEAK), CD19, CD81, CR2 (CD21), MS4A1 (CD20), TNFRSF7 (CD27), IL21, IL21R, LRBA, CTLA4, PRKCD, PLCG2, NFKB1, NFKB2, PIK3CD, PIK3R1, VAV1, RAC2, BLK, IKZF1 (IKAROS) and IRF2BP2. In addition, there is evidence of complex inheritance rather than a monogenic CVID. Further exploration of innate lymphoid cell biology in CVID may uncover key mechanisms underlying the development of inflammatory complications in these patients
Nouf Khalid Hamid has completed her Medical degree from Imam Abdulrahman Bin Faisal University, KSA. She has completed her Residency in Internal Medicine at Imam Abdulrahman Bin Faisal University and King Fahd Military Complex. She is an Internal Medicine Registrar at Imam Abdulrahman Bin Faisal University. She has several awards from Prince Mohammed bin Fahad Youth Leadership Center, The Science Innovation Club. She has published several researches and case reports and has been serving as an Editorial Board Member of repute.
dr.nouf.k.h@hotmail.com