Table 1 Fourteen patients with Majeed syndrome: clinical course and laboratory investigations

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