Table 1 Diagnostic testing with normal results

Autoinflammation/Autoimmunity

• Acute phase reaction proteins (CRP, SAA), Erythrocyte-Sedimentation Rate (ESR), phagocyte-specific S100-proteins

• Sanger sequencing of the following genes: NLRP3 (CAPS), TNFRSF1a (TRAPS), MVK (HIDS), MEFV (FMF), PSTPIP1 (PAPA)

• Antinuclear-antibodies (ANA), anti-dsDNA, antineutrophil cytoplasmic antibodies (ANCA)

Immunodeficiency

• Complement system tests (AP 50, CH 50, C3 and C4)

• IgG, IgM, IgA, IgG-subclasses, lymphocyte subpopulations, vaccination titers, T-cell proliferation, in vitro granulocyte respiratory burst, in vitro granulocyte phagocytosis, maternal chimerism

• Bone marrow aspiration

Dermatologic conditions

• Skin biopsies on six occasions showing mild neutrophil infiltration

• Testing for epidermolysis bullosa, epidermolysis bullosa aquisita, pemphigoid

Intoxications

• Intensive interview with family for identification of accidental contaminants (plants, detergents, dyes, insecticides, mercury exposure etc.) in their household and evaluation by public health department.

• Target-oriented tracing for contaminants in the private house of the family by the local health authority

• Investigation of patient material for contaminants (e.g. urine for heavy metals)

Miscellaneous

• Ultrasonography of abdomen and lymph nodes, cranial MRI on two occasions, echocardiography

• Diagnostic hospitalisation for surveillance of suspicious activity of the family (10 months of age; 32 months of age)

• Extensive ophthalmologic investigations for eye inflammation and reasons for anisocoria