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Table 3 Autoimmune features identified in SIOD patients

From: Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

Pedigree number Gender SMARCAL1 mutations Autoimmune disease Therapy Reference
SD8 F p.[L397RfsX39]
+[*]
Autoimmune thrombocytopenia, autoimmune anemia Thrombocytopenia resolved with steroids & IgG infusion. [39]
SD23 M p.[E848X]
+[E848X]
Autoimmune bowel disease Diarrhea and villous atrophy resolved with steroid treatment. [16]
SD25 F p.[R17X]
+[Q34X]
Autoimmune thrombocytopenia None; improved spontaneously.  
SD29 M p.[R645PfsX16]
+[D271_M288del]
Pericarditis, anti-cardiolipin antibodies ?  
SD49 M p.[V641GfsX50]
+[S774X]
Autoimmune bowel disease Patient died before treatment.  
SD100 M p.[E377Q]+[F279S] Autoimmune thrombocytopenia Thrombocytopenia resolved with splenectomy.  
SD102 M p.[E848X]+[E848X] Autoimmune bowel disease ?  
SD111 M p.[E377Q]+[L531P] Autoimmune thrombocytopenia
and anemia
First episode improved spontaneously; at second episode patient died.  
SD140 F p.[E848X]+[P480L] Evans syndrome Steroid, CSA and rituximab resistant; patient died.  
  1. * No SMARCAL1 protein was detected in patient cells; therefore, the second allele is a null although a mutation was not detected by sequencing of the coding exons.
  2. Proposita