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Table 1 Comparison of clinical features of patient with homozygous NCF1, p.Arg90His to pediatric SLE patients

From: Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report

Disease Features

Pediatric SLE Patientsa

NCF1 Variant Patient

Age of disease onset

Average 12 years

18 months

Fever

35–100%

+

Pattern

With active disease

Recurrent episodes

Cutaneous Involvement

60–90%

+

Manifestations

Malar rash; photosensitivity; discoid rash; mucosal ulceration

Inflamed linear lesion with atrophic scar

Alopecia

10–30%

+

Arthritis

60–90%

–

Neuropsychiatric involvement

15–95%

+

Manifestations

Headaches; cognitive dysfunction; seizures; psychosis

Severe headache with fever

Pericarditis

20–30%

–

Pleuritis

20–30%

–

Renal Disease

48–100%

–

Gastrointestinal Disease

24–40%

+

Manifestations

Peritonitis (sterile); abnormal liver function; pancreatitis; colitis

Focal minimal triaditis

Hematological disorders

33–75%

+

Manifestations

Anemia; lymphopenia > neutropenia; thrombocytopenia

Chronic anemia; intermittent thrombocytopenia, neutropenia and lymphopenia

Inflammatory Markers

ESR correlates with active disease; CRP often normal

ESR elevated disproportionate to CRP with fever

Autoantibodies

 ANA

> 99%

+

 Anti-ds DNA

84–100%

–

 Anti-Sm

23–48%

–

 Anti-Ro

38–54%

+

 Anti-La

16–32%

+

  1. SLE systemic lupus erythematosus; ESR erythrocyte sedimentation rate; CRP C-reactive protein; ANA antinuclear antibody; ds double-stranded; Sm Smith
  2. aAdapted from Cassidy JT, Petty RE, Laxer RM, Lindsley CB. Textbook of Pediatric Rheumatology, 6th edition. 2011. Saunders Elsevier; Philadelphia, PA