author | Gender | Age at onset/diagnosis | Clinical features | Laboratory tests | Genetic testing | others |
---|---|---|---|---|---|---|
Mosawi [2] | F | 10 m/3 y | CRMO | ESR 66–96 mm/h CRP 30 mg/L Neutropenia (750/mm3) Hb 7.5–9.5 g/dL | c.2327 + 1G > C | Fever Dyserythropoietic anemia Neutropenia |
Ferguson [3] | F | – | CRMO | – | c.2201C > T p.s734 L | Mild fever Microcytosis Sweet syndrome Relative with psoriasis |
M | – | CRMO | – | c.2201C > T p.s734 L | Mild fever Microcytosis Sweet syndrome Relative with psoriasis | |
M | – | CRMO | – | c.2201C > T p.s734 L | Mild fever Microcytosis Relative with psoriasis | |
M | – | CRMO | – | c.2201C > T p.s734 L | Mild fever Microcytosis Sweet syndrome Relative with psoriasis | |
– | – | CRMO | – | c.540_541delAT p.(Cys181*) | High fever Microcytosis Frequent blood transfusion pustulosis | |
– | – | CRMO | – | c.540_541delAT p.(Cys181*) | High fever Microcytosis Frequent blood transfusion | |
Herlin [4] | M | 6 m/29 m | CRMO | ESR 92 mm/h CRP 19.6 mg/L Hb 9.7 g/dL | c.1316_1317delCT P.(Ser439Trpfs*15) | Dyserythropoietic anaemia |
M | 3 m/13 m | CRMO | ESR 96 mm/h CRP 23.7 mg/L Hb 9.0 g/dL | c.1316_1317delCT P.(Ser439Trpfs*15) | Dyserythropoietic anemia Fever | |
Rao [5] | M | 2 y/15 y | CRMO | ESR 53–140 mm/h Hb 7.9–9.9 g/dL Neutropenia (2840–4230/mm3) | c.2241_2243delinsGG | Mild neutropenia Dyserythropoietic Anemia |
M | 8 y/13 y | Milder CRMO | ESR 45 mm/h Hb 11.2 g/dL | c.2241_2243delinsGG | Mild anemia | |
Moussa [6] | M | 6 m/5y | CRMO | ESR14-92 mm/h CRP < 5-14 mg/L Hb9.7–12.1 g/dL | c.2327 + 1G > C p.s734 L | No skin lesions Mild anemia |
F | 4 y/14 y | CRMO | ESR20–68 mm/h CRP < 5–59 mg/L Declining Hb to 8 g/dL at age 15 years | c.2327 + 1G > C p.s734 L | No skin lesions Idiopathic scoliosis Rheumatic fever Dyserythropoietic anemia | |
Roy [13] | M | – | CRMO | High inflammatory | c.2207 G > A p.R736H | Microcytic anaemia |