Table 1.

Disease history with main symptoms, somatic features, and laboratory data.

Age	Weight/height SDS	Main diagnosis and symptoms. Treatment	Somatic features	Laboratory features
1 month	N/A	Septicemia, pneumonia	Erythroderma	IgE 855 IU/mL (<10)
3–5 months	N/A	Pneumonias Urinary tract infections Intermittent dyspepsia Meningitis	Hypotrophy Enlarged peripheral lymph nodes Pruritic eczematous dermatitis	N/A
6 months	Weight 4590 g (−3.67 SDS) Height 60 cm (−2.6 SDS)	Bronchiolitis Complex treatment with respiratory therapy, antibiotics, topical emollients/steroids, antihistamines, and dietary feeding with protein hydrolyzed lactose free formula	Hypotrophy Enlarged peripheral lymph nodes Pruritic eczematous dermatitis Muscle hypotonia Left kidney malrotation Hydronephrosis and mild vesicoureteral reflux	IgG 9.11 g/L (1.39–9.34) IgM 1.02 g/L (0.2–1.2) IgA 0.38 g/L (0.04–0.78) IgE > 4000 IU/mL (<10) Eosinophilia 13% Normal T and B cell subset quantification Mild iron deficiency Hemoglobin 115 g/L
1.6 years	7400 g (−3.42 SDS)	Diabetes mellitus Right thigh phlegmon Transient watery diarrhea with weight loss up to 6800 g Insulin dose of 1.3 U/kg b.w. Surgical incision and antibiotics Protein hydrolyzed lactose free formula and gluten-free diet	Coarse face with prominent forehead, broad nasal bridge, bulbous nose, and macroglossia Joint hyperextensibility Subcutaneous cold abscesses on the neck and face Eczematous dermatitis Napkin's dermatitis Balanoposthitis	Blood sugar 27 mmol/L No ketones Anti-GAD65 antibodies 32 ng/mL (normal <32) Anti-insulin antibodies 60.1 IU/mL (<10) Basal C-peptide 158.7 pmol/L (198–960) Tissue transglutaminase IgA antibodies 5.2 U/mL (<7.0) TSH 1.34 mIU/L (0.4–4.2) fT4 11.2 pmol/L (9.8–18.9)
1.9 years	9300 g (−2.80 SDS)	Intermittent watery diarrhea Insulin dose 0.75 U/kg b.w. Lactose/gluten-free diet	Mentioned above	HbA1c 7.65% (4–6) (COBAS INTEGRA/Roche diagnostic system)
2.1–2.3 years	7000–11500 g	Severe watery diarrhea Hypoglycemias Vomiting and intolerance to oral feeding Reduced insulin dose 0.3 to 0.1 U/kg b.w Parenteral nutrition Antibiotics i.v. Corticosteroids i.v. Drainage of peritoneal transudation Diuretics	Mentioned above + severe malnutrition Enlarged tensed abdomen, visible abdominal wall veins, intestinal sacculations, and significant abdominal dropsy Lung hypervolemia on X-ray examination	Proteinuria with granular and hyaline casts Hypoproteinemia 52.8 g/L Na 120 mmol/L Ca 1.89 mmol/L K 3.9 mmol/L Metabolic nonketotic acidosis (pH 7.15) Normal urea Creatinine and transaminases Uroculture negative Varied bacterial and  Candida contamination of the stools