Skip to main content

Table 1 Main features of the four enrolled children

From: Clinical manifestations of four patients diagnosed with early-onset sarcoidosis or sarcoid-like syndrome

 

Clinical data

Analytical data

ACE

Non-caseating granulomata

Diagnosis

1

Arthritis, rash, uveitis

Heterozygous p.R334Q

27.5

Skin

EOS

  

Mutation at NOD2 gene

   

2

Splenomegaly,

Lymphopenia

  

CVID

 

lymphadenopathy,

Thrombocytopenia

  

Sarcoid like syndrome

 

interstitial/nodular

Hypogammaglobulinemia

92

Lung

 
 

lung disease

Poor antibody responses

   

3

Arthritis, rash, uveitis

    
  

Heterozygous p.C495Y

19

Skin

Blau’s syndrome

  

Mutation at NOD2 gene

 

Synovial

 
    

Liver

 

4

Right facial paralysis, parotid enlargement, uveitis, high fever

 

74.8

 

Heerfordt’s syndrome

  1. ACE = angiotensin converting enzyme serum level (normal 10-50 IU/l)
  2. CVID = common variable immunodeficiency