Patients’ clinical and laboratory findings
| Patient . | V-1 . | V-4 . | V-5 . | V-9 . | V-11 . |
|---|---|---|---|---|---|
| Age at clinical presentation (mo) | 5 | 7 | 5 | 1 | 5 |
| Main clinical findings at presentation | Omphalitis, gluteal abscess, lymphadenopathy | Gluteal abscess (S. aureus), osteomyelitis | Intraabdominal abscess | Recurrent infections (gram-negative and gram-positive), splenomegaly, lymphadenopathy | Recurrent infections (Pseudomonas), splenomegaly, osteomyelitis, invasive fungal infection |
| Hemoglobin level (g/dL) at presentation | 7.3 | 7.4 | 8.6 | 7.7 | 8.2 |
| Hemoglobin F (%) | NA | 1 | NA | 2.8 | 3.2 |
| MCV at presentation | 84 | 82 | 84 | 86 | 83 |
| Hemoglobin level (g/dL) range | 5-13.2 | 6.4-10 | 5-9 | 6-8.2 | 6.4-7.8 |
| Absolute neutrophil count (109/L) at presentation | 100 | 200 | 100 | 250 | 300 |
| Absolute neutrophil count range (109/L) | <100-1000 | <100-2100 | 100 | <100-800 | <100-800 |
| Platelets (109/L) at presentation | 260.0 | 164.0 | 56.0 | 32.0 | 230.0 |
| Platelet range (109/L) | 30.0-274.0 | 6.0-170.0 | 12.0-96.0 | 9.0-110.0 | 180.0-417.0 |
| Peripheral blood smear | NA | Aniso-/poikilocytosis, dakryocytes, bands | NA | Aniso-/poikilocytosis, dakryocytes, bands | Aniso-/poikilocytosis, dakryocytes, bands |
| Bone marrow aspiration | Dry tap | Dry tap | NA | Dry tap | Dry tap |
| Bone marrow biopsy | Hypercellularity with myeloid hyperplasia, significant fibrosis | Myeloid hyperplasia, increase of reticulin fibers, fibrosis | NA | Significant collagenous fibrosis with increased reticulin fibers, left shift and decreased number of megakaryocytes | Myeloid hyperplasia with significant myelofibrosis |
| Radiological findings | Nephromegaly | Nephromegaly, periosteal reaction, osteosclerosis, absence of diploic space; resolved after BMT | NA | Nephromegaly, sclerotic changes of the diploic space of skull | Nephromegaly, sclerotic changes of the diploic space of skull |
| Time to follow-up and clinical outcome | Died of sepsis at the age of 3 y | 2 y after BMT,100% donor, normal blood count, PDD | Died 1 wk after presentation | 18 mo, listed for BMT | 8 mo, treated for invasive fungal infection, listed for BMT |
| Patient . | V-1 . | V-4 . | V-5 . | V-9 . | V-11 . |
|---|---|---|---|---|---|
| Age at clinical presentation (mo) | 5 | 7 | 5 | 1 | 5 |
| Main clinical findings at presentation | Omphalitis, gluteal abscess, lymphadenopathy | Gluteal abscess (S. aureus), osteomyelitis | Intraabdominal abscess | Recurrent infections (gram-negative and gram-positive), splenomegaly, lymphadenopathy | Recurrent infections (Pseudomonas), splenomegaly, osteomyelitis, invasive fungal infection |
| Hemoglobin level (g/dL) at presentation | 7.3 | 7.4 | 8.6 | 7.7 | 8.2 |
| Hemoglobin F (%) | NA | 1 | NA | 2.8 | 3.2 |
| MCV at presentation | 84 | 82 | 84 | 86 | 83 |
| Hemoglobin level (g/dL) range | 5-13.2 | 6.4-10 | 5-9 | 6-8.2 | 6.4-7.8 |
| Absolute neutrophil count (109/L) at presentation | 100 | 200 | 100 | 250 | 300 |
| Absolute neutrophil count range (109/L) | <100-1000 | <100-2100 | 100 | <100-800 | <100-800 |
| Platelets (109/L) at presentation | 260.0 | 164.0 | 56.0 | 32.0 | 230.0 |
| Platelet range (109/L) | 30.0-274.0 | 6.0-170.0 | 12.0-96.0 | 9.0-110.0 | 180.0-417.0 |
| Peripheral blood smear | NA | Aniso-/poikilocytosis, dakryocytes, bands | NA | Aniso-/poikilocytosis, dakryocytes, bands | Aniso-/poikilocytosis, dakryocytes, bands |
| Bone marrow aspiration | Dry tap | Dry tap | NA | Dry tap | Dry tap |
| Bone marrow biopsy | Hypercellularity with myeloid hyperplasia, significant fibrosis | Myeloid hyperplasia, increase of reticulin fibers, fibrosis | NA | Significant collagenous fibrosis with increased reticulin fibers, left shift and decreased number of megakaryocytes | Myeloid hyperplasia with significant myelofibrosis |
| Radiological findings | Nephromegaly | Nephromegaly, periosteal reaction, osteosclerosis, absence of diploic space; resolved after BMT | NA | Nephromegaly, sclerotic changes of the diploic space of skull | Nephromegaly, sclerotic changes of the diploic space of skull |
| Time to follow-up and clinical outcome | Died of sepsis at the age of 3 y | 2 y after BMT,100% donor, normal blood count, PDD | Died 1 wk after presentation | 18 mo, listed for BMT | 8 mo, treated for invasive fungal infection, listed for BMT |
MCV, mean corpuscular volume; PDD, Pervasive Developmental Disorders; NA, not applicable.