Table 1.

Demographic, molecular and immunological characteristics of SPENCD patients.

	Sex	Country of origin	Consanguinity	Relationship to other patients	Nucleotide / amino acid alteration	Antinuclear antibodies (titer)	Anti-dsDNA antibodies (titer)	Thrombocytopenia	Autoimmune haemolytic anemia	Lupus nephritis	ACR* diagnosis of lupus	Treated hypothyroidism	Raynaud's / vasculitis
Patient 1†	Female	France	No	None	Hom Del 11543542- 11558411	Yes (1:1280)	No	No	No	No	No	Yes	Yes
Patient 2	Female	Austria	No	Sister of 3	369C>A/ Y123X Het 721G>A/ D241N Het	Yes (1:640)	Yes (1:320)	Yes	No	Yes	Yes	Yes	No
Patient 3	Male	Austria	No	Brother of 2	369C>A/ Y123X Het 721G>A/ D241N Het	No	No	Yes	No	No	No	No	No
Patient 4	Male	Turkey	Yes	Brother of 5	266C>T/ T89I Hom	Yes (1:640)	Yes (100 IU/ml)	No	No	No	No	No	Yes
Patient 5	Female	Turkey	Yes	Sister of 4	266C>T/ T89I Hom	No	No	No	No	No	No	No	Yes
Patient 6	Male	Pakistan	Yes	None	667C>T/ Q223X Hom	Yes (>1:320)	Yes (1:1280)	No	Yes	No	No	No	No
Patient 7	Male	India	Yes	None	Hom Del 11543690- 11548656	Yes††	Yes††	Yes	No	Yes	Yes	No	No
Patient 8§	Female	Portugal	Yes	None	791 T>A/ M264K Hom	Yes (1:1280)	Yes (500 IU/ml)	Yes	No	No	Yes	Yes	No
Patient 9	Female	Mali	Unknown	None	643 G>A/ G215R Hom	Yes (1:1600)	Yes†† 121 (n<100)	Yes	Yes	Yes	Yes	No	No
Patient 10	Female	Egypt	Yes	None	Hom Del c.771-790 S258W fsX39	Yes (1:640)	Yes†† 33 (n<20)	No	No	No	No	No	No

^†This patient also had a biopsy proven diagnosis of Sjögren's syndrome and an inflammatory myositis.

^§This patient demonstrated a non-erosive arthropathy involving more than 2 joints.

^††Strongly positive on immunoblot/ELISA.

^*ACR: American College of Rheumatology. Hom= Homozygous. Del= Deletion.