Sloan, Emily A.Elizondo, Leah I.Huang, ChengAndré, Jean-LucBogdanovic, RadovanCockfield, SandraCordeiro, IsabelDeschenes, GeorgesFründ, StefanKaitila, IlkkaLama, GiulianaLamfers, PetraLücke, ThomasMilford, David V.Najera, LydiaRodrigo, FranciscoSaraiva, Jorge M.Schmidt, BeateSmith, Graham C.Stajic, NastasaStein, AnjaTaha, DorisWand, DorotheaArmstrong, DawnaBoerkoel, Cornelius F.2021-08-092021-08-092005-07-01Kılıç, S. Ş. vd. (2005). "Association of migraine-like headaches with schimke immuno-osseous dysplasia". American Journal of Medical Genetics Part A, 135A(2), 206-210.1552-4825https://doi.org/10.1002/ajmg.a.30692https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.30692http://hdl.handle.net/11452/21370Schimke immuno-osseous dysplasia (SIOD) is characterized by spondyloepiphyseal. dysplasia, nephropathy, and T-cell deficiency. SIOD is caused by mutations in the putative chromatin remodeling protein SAL&RCAL1. We report an 8-year-old boy with SIOD and recurrent, severe, refractory migraine-like headaches. Through a retrospective questionnaire-based study, we found that refractory and severely disabling migraine-like headaches occur in nearly half of SIOD patients. We have also found that the vasodilator minoxidil provided symptomatic relief for one patient. We hypothesize that these headaches may arise from an intrinsic vascular, neuroimmune, or neurovascular defect resulting from loss of SMARCAL1 function.eninfo:eu-repo/semantics/closedAccessMigraineImmunodeficiencySkeletal dysplasiaHeadacheRenal failureNephrotic syndromeImmunoosseous dysplasiaSpondyloepiphyseal dysplasiaDiseaseGenetics & heredityArticle0002294880000192-s2.0-20044373274206210135A215884045Genetics & heredityGene productMinoxidilProtein SMARCAL1Unclassified drugVasodilator agentBone dysplasiaCase reportChildDisease associationGene mutationHeadacheHumanKidney diseaseMaleMigraineNeuroimmunologySchimke immunoosseous dysplasiaT cell depletion