Patient clinical characteristics
| Patient no. . | Sex . | Age at transplant, y . | Ethnicity/consanguinity . | Gene affected . | H/W, % . | General bone problems . | Facial bones and teeth problems . | Infections . | Sensorial problems . | Hematological problems . | Pretransplant hematological parameters: Hb, g/dL; WBC, ×109/L; plt, ×109/L . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 14 | Arab/Y | SNX10 (heterozygous): [c.152G>A; p.R51Q] | 3-10 | Fractures, SS | Frontal bossing, EE, choanal stenosis, HPT | None | Unilateral blindness | Mild splen., transf. independent | 9.4/6.9/328 |
| 2 | F | 9 | Tajik/Y | TCIRG1 (homo): [c.c.1673+4A>T p.Val558Ala*111] | <3 | SS, no fractures | Frontal bossing, prominent forehead, HPT | Destructive osteomyelitis of the maxilla (bacterial, fungal) | No vision impairment | Splen., anemia (RBC transf.) | 7.6/2.8/113 |
| 3 | F | 12 | German/Y | RANK (homo): [g.29683_4 ins C; p.Arg110ProfsX52] | <3/3-10 | SS, pathological fractures (wheelchair) | Frontal bossing, EE, choanal stenosis (tracheostomy), HPT | Destructive osteomyelitis of the maxilla (bacterial, fungal) | Blindness, impaired hearing (aid device) | Hepatosplenomegaly, anemia (RBC transf.) | 10.4*/5.0/143 |
| 4 | M | 30 | Spanish/Y | TCIRG1 (homo): [c.1331G>T; p.Arg444Leu] | <3 | SS, pathological fractures (wheelchair) | Frontal bossing, prominent forehead, HPT | Destructive osteomyelitis of the mandible (bacterial) | Mildly impaired vision, hearing | Splen., leukopenia, and anemia (RBC transf.) | 9.9*/3.5/109 |
| 5 | M | 7 | Arab/Y | CLCN7 (homo): [c.1531G>C; p.Ala511Pro] | 25-50 | Pathological fractures | Scaphocephalous | None | Impaired vision (blindness in right eye after optical nerve decompression) | Mild anemia (no transf.) | 10.4/4.0/189 |
| 6 | F | 5 | Arab/Y | CLCN7 (homo): [c.1531G>C; p.Ala511Pro] | 3-10 | Pathological fractures | Scaphocephalous, choanal stenosis | None | Severely impaired vision | Hepatosplenomegaly, pancytopenia (RBC transf.) | 8.9*/4.6/109 |
| 7 | M | 28 | Dagestanian/Y | CA2 (homo) [Chr8:86389420 C>G p.Y193X] | <3 | SS, pathological fractures | Frontal bossing, prominent forehead, pathological teeth | None | Impaired vision (unilateral blindness) | Mild splen., transf. independent | 9.9/7.3/240 |
| Patient no. . | Sex . | Age at transplant, y . | Ethnicity/consanguinity . | Gene affected . | H/W, % . | General bone problems . | Facial bones and teeth problems . | Infections . | Sensorial problems . | Hematological problems . | Pretransplant hematological parameters: Hb, g/dL; WBC, ×109/L; plt, ×109/L . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | 14 | Arab/Y | SNX10 (heterozygous): [c.152G>A; p.R51Q] | 3-10 | Fractures, SS | Frontal bossing, EE, choanal stenosis, HPT | None | Unilateral blindness | Mild splen., transf. independent | 9.4/6.9/328 |
| 2 | F | 9 | Tajik/Y | TCIRG1 (homo): [c.c.1673+4A>T p.Val558Ala*111] | <3 | SS, no fractures | Frontal bossing, prominent forehead, HPT | Destructive osteomyelitis of the maxilla (bacterial, fungal) | No vision impairment | Splen., anemia (RBC transf.) | 7.6/2.8/113 |
| 3 | F | 12 | German/Y | RANK (homo): [g.29683_4 ins C; p.Arg110ProfsX52] | <3/3-10 | SS, pathological fractures (wheelchair) | Frontal bossing, EE, choanal stenosis (tracheostomy), HPT | Destructive osteomyelitis of the maxilla (bacterial, fungal) | Blindness, impaired hearing (aid device) | Hepatosplenomegaly, anemia (RBC transf.) | 10.4*/5.0/143 |
| 4 | M | 30 | Spanish/Y | TCIRG1 (homo): [c.1331G>T; p.Arg444Leu] | <3 | SS, pathological fractures (wheelchair) | Frontal bossing, prominent forehead, HPT | Destructive osteomyelitis of the mandible (bacterial) | Mildly impaired vision, hearing | Splen., leukopenia, and anemia (RBC transf.) | 9.9*/3.5/109 |
| 5 | M | 7 | Arab/Y | CLCN7 (homo): [c.1531G>C; p.Ala511Pro] | 25-50 | Pathological fractures | Scaphocephalous | None | Impaired vision (blindness in right eye after optical nerve decompression) | Mild anemia (no transf.) | 10.4/4.0/189 |
| 6 | F | 5 | Arab/Y | CLCN7 (homo): [c.1531G>C; p.Ala511Pro] | 3-10 | Pathological fractures | Scaphocephalous, choanal stenosis | None | Severely impaired vision | Hepatosplenomegaly, pancytopenia (RBC transf.) | 8.9*/4.6/109 |
| 7 | M | 28 | Dagestanian/Y | CA2 (homo) [Chr8:86389420 C>G p.Y193X] | <3 | SS, pathological fractures | Frontal bossing, prominent forehead, pathological teeth | None | Impaired vision (unilateral blindness) | Mild splen., transf. independent | 9.9/7.3/240 |
EE, extreme exophthalmos; F, female; H, height; Hb, hemoglobin; homo, homozygous; HPT, highly pathological teeth; M, male; plt, platelets; RBC, red blood cell; splen., splenomegaly; SS, short stature; transf., transfusion; VP, ventriculoperitoneal; W, weight; WBC, white blood cell count; Y, yes.
Transfusion dependent.