Table 2.
Deviation expected | Altered in specific diagnosis or in common NE | Reference(s) | |
---|---|---|---|
Laboratory test in general | |||
Sodium/potassium | ↓↑ | Common | 1, 3, 4, 5, 7, 9 |
Serum albumin | ↓ | Common | 1, 3, 4, 5, 7, 9 |
Complete blood count, leuco diff and platelets | ↓↑ | Common, NS, OS | 1, 4, 9, 83, 97 |
Haemoglobin | ↓ | Common | 5 |
Erythrocyte sedimentation rate | ↑ | Common | 5 |
Serum creatinine and serum urea | ↑ | Common | 7 |
C‐reactive protein | ↑ | Common | 9 |
Laboratory test on indication | |||
Capillary blood gas | ketoacidosis | Common | 1 |
Natural Killer (NK‐) cells | ↓ | NS | 98 |
Immunoglobulins IgE, IgG, and IgA | ↓↑ | NS, Omenn, AD, WAS, IPEX, IgA deficiency | 12, 84, 97, 98 |
T and B lymphocytes | ↓ | PID | 99, 100 |
Serum zinc and alkaline phosphatase | ↓ | Acrodermatitis enteropathica | 97 |
Biotinidase and holocarboxylase essays | ↓ | Biotinidase and holocarboxylase deficiency | 97 |
Serum tryptase | ↑ | Diffuse Cutaneous Mastocytosis | 73, 101 |
Serum creatin kinase | ↑ | CDS | 82 |
Ceruloplasmin and serum copper | ↑ | Menkes disease | 43 |
Glucose | ↓ | Common | 7, 9 |
Ammino acids (urine) | ↑ | NS | 83 |
Serum ammonia | ↑ | Metabolic diseases | 7, 9 |
Serum Calcium | ↓ | DiGeorge | 102 |
AD, atopic dermatitis; CDS, Chanarin‐Dorfman syndrome; IPEX, Immunodysregulation polyendocrinopathy enteropathy X‐linked; NS, Netherton syndrome; OS, Omenn syndrome; PID, primary immunodeficiency; WAS, Wiskott‐Aldrich syndrome.