DNA ligase IV deficiency

MeSH: C564694ORPHA: 998121 Treatment Available

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
4. Classification & Codes

Overview

Human disease

Available Treatments (1)

Drug	Form	Status	Countries	Lead Time
Immunoglobulin Cold Chain	IV infusion 10% solution (100mg/mL), subcutaneous injection 20% solution	FDA Approved	10	10d

Clinical Presentation

Signs and symptoms associated with DNA ligase IV deficiency, sourced from HPO and Orphanet clinical annotations.

CryptorchidismThin vermilion borderBrachycephalyMicrocephalyEpicanthusLow anterior hairlineBird-like faciesMicrognathiaWide nasal bridgeTelecanthusUpslanted palpebral fissureHypothyroidismAbnormality of the skeletal systemCutaneous photosensitivityIntellectual disabilityGlobal developmental delayGrowth delayPancytopeniaIncreased total leukocyte countMalabsorptionHepatomegalyAcute leukemiaLymphomaLymphadenopathyImmunodeficiencyAbnormality of chromosome stabilityClinodactyly of the 5th fingerBiparietal narrowingSevere combined immunodeficiencyAbnormal bone marrow cell morphologyType II diabetes mellitusHypoplasia of penisErythemaTelangiectasia of the skinConvex nasal ridge

Classification & Codes

MeSH Code

C564694

Orphanet Code

ORPHA:99812

DNA ligase IV deficiency

MeSH	`C564694`
Orphanet	`ORPHA:99812`
Treatments	1 drug(s)
Symptoms on record	35 signs
Status	published

Treatment Summary

Immunoglobulin

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO