Genomic coordinate (human 10:6,010,689 IL2RA) & (mouse 2:11,647,618 Il2ra).
Cytoband (human 10p15.1 IL2RA) & (mouse 2qA1 Il2ra).
Here I present: “Insulin-dependent Diabetes-mellitus“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (T1D10) icd10=Z79.4
INTRODUCTION.
Type 1 Diabetes Mellitus 10 (T1D10) refers to a genetic subtype of autoimmune type 1 diabetes.
What T1D10 means
Disease: Type 1 Diabetes Mellitus (autoimmune destruction of pancreatic β-cells)
Subtype number: 10
Cause: Monogenic susceptibility due to variation in a specific immune-regulatory gene
Gene involved
Gene: IL2RA
Protein: Interleukin-2 receptor alpha chain (CD25)
Chromosome: 10p15.1
Pathophysiology
IL2RA is critical for:
Regulatory T-cell (Treg) development and function
Immune tolerance to self-antigens
Variants affecting IL-2 signaling impair immune regulation, allowing:
Autoreactive T cells
Immune attack on pancreatic β-cells
Absolute insulin’ deficiency
Clinical features
Typical childhood or adolescent onset
Polyuria, polydipsia, weight loss
Risk of diabetic ketoacidosis (DKA)
Lifelong insulin’ dependence
Phenotypically, T1D10 usually looks like classic type 1 diabetes, but:
May cluster in families
May associate with other autoimmune diseases (e.g., thyroiditis)
Inheritance
Complex / polygenic background, but IL2RA variants confer strong risk
Not a simple Mendelian disorder
Distinction from other diabetes types
Condition
Key feature
T1D (autoimmune)
Immune-mediated β-cell destruction
T1D10
Autoimmune T1D with IL2RA-linked susceptibility
MODY
Monogenic, non-autoimmune
Type 2 DM
Insulin’ resistance
Research relevance
Central to studies of:
Immune tolerance
T-reg dysfunction
IL-2–based immunotherapies
IL-2 modulation is being explored to preserve β-cell mass in early T1D.
There is evidence that type-1 diabetes mellitus-10 is caused by mutation in the interleukin-2 receptor alpha-chain (IL2RA) gene encoded on genomic coordinate 6,010,689 and cytoband 10p15.1 in humans.
