Skip to main content

Advertisement

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

From: Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report

authorGenderAge at onset/diagnosisClinical featuresLaboratory testsGenetic testingothers
Mosawi [2]F10 m/3 yCRMOESR 66–96 mm/h
CRP 30 mg/L
Neutropenia (750/mm3)
Hb 7.5–9.5 g/dL
c.2327 + 1G > CFever Dyserythropoietic
anemia
Neutropenia
Ferguson [3]FCRMOc.2201C > T
p.s734 L
Mild fever
Microcytosis
Sweet syndrome
Relative with psoriasis
 MCRMOc.2201C > T
p.s734 L
Mild fever
Microcytosis
Sweet syndrome
Relative with psoriasis
 MCRMOc.2201C > T
p.s734 L
Mild fever
Microcytosis
Relative with psoriasis
 MCRMOc.2201C > T
p.s734 L
Mild fever
Microcytosis
Sweet syndrome
Relative with psoriasis
 CRMOc.540_541delAT
p.(Cys181*)
High fever
Microcytosis
Frequent blood transfusion
pustulosis
 CRMOc.540_541delAT
p.(Cys181*)
High fever
Microcytosis
Frequent blood transfusion
Herlin [4]M6 m/29 mCRMOESR 92 mm/h
CRP 19.6 mg/L
Hb 9.7 g/dL
c.1316_1317delCT
P.(Ser439Trpfs*15)
Dyserythropoietic anaemia
 M3 m/13 mCRMOESR 96 mm/h
CRP 23.7 mg/L
Hb 9.0 g/dL
c.1316_1317delCT
P.(Ser439Trpfs*15)
Dyserythropoietic anemia
Fever
Rao [5]M2 y/15 yCRMOESR 53–140 mm/h
Hb 7.9–9.9 g/dL
Neutropenia (2840–4230/mm3)
c.2241_2243delinsGGMild neutropenia
Dyserythropoietic
Anemia
 M8 y/13 yMilder CRMOESR 45 mm/h
Hb 11.2 g/dL
c.2241_2243delinsGGMild anemia
Moussa [6]M6 m/5yCRMOESR14-92 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
 F4 y/14 yCRMOESR20–68 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]MCRMOHigh inflammatoryc.2207 G > A
p.R736H
Microcytic anaemia