التفاصيل البيبلوغرافية
| العنوان: |
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra. |
| المؤلفون: |
Roy, Noémi B A1,2, Zaal, Ahmad I3,4, Hall, Georgina5, Wilkinson, Nick6, Proven, Melanie7, McGowan, Simon8, Hipkiss, Ria7, Buckle, Veronica9, Kavirayani, Akhila3, Babbs, Christian9 christian.babbs@imm.ox.ac.uk |
| المصدر: |
Rheumatology. Feb2020, Vol. 59 Issue 2, p448-451. 4p. 1 Diagram. |
| مصطلحات موضوعية: |
*ANTIRHEUMATIC agents, *BIOMARKERS, *CHRONIC diseases, *DIPHOSPHONATES, *INTERLEUKIN-1, *GENETIC mutation, *OSTEITIS, *OSTEOMYELITIS, *TREATMENT effectiveness, *SWEET'S syndrome, *CONGENITAL hemolytic anemia, *CHEMICAL inhibitors, *SYMPTOMS |
| مستخلص: |
The article describes the case of a consanguineous Pakistani family whose index child presented in infancy with a conglomeration of features indicating a possible Majeed syndrome. Topics covered include the findings of the proband's DNA screening, the clinical variability in Majeed syndrome, and their therapeutic response to bisphosphonates and interleukin (IL)-1 blockade with anakinra. |
| قاعدة البيانات: |
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