Table 1 Genetics, main immunological abnormalities, and auto-immune manifestations in the grey platelet syndrome patients cohort
From: NBEAL2 deficiency in humans leads to low CTLA-4 expression in activated conventional T cells
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 | – | – | – |
