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. 2025 Jul 3;40(33):e204. doi: 10.3346/jkms.2025.40.e204

Table 6. Clinical data of diabetes.

Cases 1 2
Disease Ataxia telangiectasia CTLA-4 haplo-insufficiency
IUIS category 2 4
Sex Male Female
Current age 25 yr 9 mon 33 yr 7 mon
Diagnosis age of IEI 13 yr 14 yr 5 mon
Onset age of diabetes 18 yr 4 mon 31 yr 8 mon
Clinical symptom Polydipsia, polyuria Polydipsia, polyuria
Laboratory data
Fasting blood glucose, mg/dL (ref. 74–109) 164 125
HbA1c, % (ref. 4.0–6.0) 7.2 8.3
C–peptide, ng/mL (ref. 0.69–3.59) 5.53 0.86
Insulin, µU/mL (ref. 1.0–9.6) 30.2 2.6
Anti-GAD II Ab, U/mL (ref. 0–1.0) Negative (0.2) Negative (0.36)
Anti-insulin Ab, % (ref. 0–7.0) Negative (5.3) Negative (4.1)
Neuropathy Early autonomic dysfunction NT
Nephropathy No No
Retinopathy No No
Treatment
Age at initiation 18 yr 4 mon 31 yr 8 mon
Medication Metformin, linagliptin, glimepiride Subcutaneous insulin

CTLA-4 = cytotoxic T-lymphocyte-associated protein 4, IUIS = the International Union of Immunological Societies, IEI = inborn errors of immunity, ref. = reference, HbA1c = hemoglobulin A1c, GAD = glutamic acid decarboxylase, Ab = antibody, NT = not tested.