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Inborn errors of immunity associated with characteristic phenotypes.
Bardou MLD, Henriques MT, Grumach AS. Bardou MLD, et al. J Pediatr (Rio J). 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. doi: 10.1016/j.jped.2020.10.015. Epub 2020 Dec 19. J Pediatr (Rio J). 2021. PMID: 33347837 Free PMC article. Review.
DATA SYNTHESIS: Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups. The diversity of clinical manifestations is observed in each described disease and may appear early or later, with variable severity. Congenital thr …
DATA SYNTHESIS: Immunodeficiencies with syndromic characteristics include 65 immunological defects in 9 subgroups. The diversity of clini …
Thrombopoietic effect of VPAC1 inhibition during megakaryopoiesis.
Peeters K, Loyen S, Van Kerckhoven S, Stoffels K, Hoylaerts MF, Van Geet C, Freson K. Peeters K, et al. Br J Haematol. 2010 Oct;151(1):54-61. doi: 10.1111/j.1365-2141.2010.08327.x. Epub 2010 Aug 5. Br J Haematol. 2010. PMID: 20735399 Free article.
The neuropeptide PACAP and VPAC1 were previously found to negatively regulate megakaryopoiesis, and inhibition of their physiological pathway was found to have a thrombopoietic effect in conditions where megakaryopoiesis and thrombopoiesis were impaired, such as chemotherapy-indu …
The neuropeptide PACAP and VPAC1 were previously found to negatively regulate megakaryopoiesis, and inhibition of their physiological pathwa …
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Abuzenadah AM, Zaher GF, Dallol A, Damanhouri GA, Chaudhary AG, Al-Sayes F, Gari MA, AlZahrani M, Hindawi S, Al-Qahtani MH. Abuzenadah AM, et al. J Thromb Thrombolysis. 2013 Nov;36(4):501-6. doi: 10.1007/s11239-012-0864-x. J Thromb Thrombolysis. 2013. PMID: 23334996 Clinical Trial.
This finding will help to accurately diagnose and classify similar cases of congenital thrombocytopenia and provide further proof to the power of whole-exome sequencing in personalizing patients management from the point of diagnosis to treatment and followup....
This finding will help to accurately diagnose and classify similar cases of congenital thrombocytopenia and provide further pr …
Recombinant interleukin-6 in the treatment of congenital thrombocytopenia associated with absent radii.
Aquino VM, Mustafa MM, Vaickus L, Wooley R, Buchanan GR. Aquino VM, et al. J Pediatr Hematol Oncol. 1998 Sep-Oct;20(5):474-6. doi: 10.1097/00043426-199809000-00013. J Pediatr Hematol Oncol. 1998. PMID: 9787323
The role of IL-6 and other thrombopoietic agents in the treatment of TAR and other congenital thrombocytopenias deserves further clinical study....
The role of IL-6 and other thrombopoietic agents in the treatment of TAR and other congenital thrombocytopenias deserves further clinical …