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

Table 3 Autoimmune features identified in SIOD patients

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.

* 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.
^¶Proposita

ISSN: 1546-0096