Table 1.

Genetics, main immunological abnormalities, and auto-immune manifestations in the grey platelet syndrome patients cohort

Patient ID	Gender	Age range at sampling	Affected Allele	Mutation 1	Mutation 2	Affected protein domains	Immunological abnormalities and autoimmune manifestations	Splenomegaly	Myelofibrosis
P1	M	18-25 yo	Homozygous	p.R1839C	p.R1839C	–	Evans syndrome, neutropenia, adenopathy	–	–
P2	M	10-18 yo	Homozygous	p.L1501X	p.L1501X	–	Chill blain lupus	–	–
P3a	F	18-25 yo	Homozygous	p.I682F	p.I682F	Con A	Multiple episodes of EBV reactivation	Splenomegaly	–
P4.II-1#	F	35-45 yo	Compound	p.E643V	p.P2100L	Con A & BEACH	Recurrent infections	–	Myelofibrosis
P4.II-2#	M	35-45 yo	Compound	p.E643V	p.P2100L	Con A & BEACH	–	–	Myelofibrosis leading to BMT
P4.II-3#	F	35-45 yo	Compound	p.E643V	p.P2100L	Con A & BEACH	Auto-immune thyroiditis, RA, vitiligo	–	Myelofibrosis
P5.II-1	F	55-65 yo	Homozygous	p.R1631Gfs*3	p.R1631Gfs*3	–	Auto-immune thyroiditis	Splenomegaly	–
P5.II-2	M	55-65 yo	Homozygous	p.R1631Gfs*3	p.R1631Gfs*3	–	Moderate CD4 + T and B lymphopenia, platelets autoantibodies	Splenomegaly	–
P6#	M	45-55 yo	Compound	p.Y1020H	c.2650-1 G > A	–	–	–	Myelofibrosis
P7#	M	25-35 yo	Compound	p.S2269L	p.G2553E	BEACH & WD40	NK lymphopenia	–	–
P8	F	45-55 yo	Compound	p.C2190Xfs*23	p.L2646P	BEACH & WD40	T and NK lymphopenia, alopecia	Splenomegaly	–
P9.II-1*	M	18-25 yo	Homozygous	p.T2487fs*16	p.T2487fs*16	WD40 repeats	–	–	–
P9.II-2*	F	10-18 yo	Homozygous	p.T2487fs*16	p.T2487fs*16	WD40 repeats	–	–	–

The variants not previously described in the literature are mentioned by a star (*). All variants are detailed in Supplementary Table 1. Bone marrow biopsies were performed for patients mentioned by the symbol (#).

GPS grey platelet syndrome, M male, F female, yo years old, BMT bone marrow transplant.

^aPatient P3 is described for the first time, however the same variant has previously been described (see Supplementary Table 1).