# An Immunodeficiency Disorder Presenting in the Neonatal Period

## TL;DR

This paper reports a rare case of a newborn diagnosed with chronic granulomatous disease, a type of primary immunodeficiency, through a positive Dihydrorhodamine test.

## Contribution

The novelty lies in presenting a neonatal case of CGD confirmed by DHR test, highlighting early diagnosis possibilities.

## Key findings

- A four-day-old boy presented with a neck mass and infections confirmed as CGD via DHR test.
- CGD was diagnosed in the neonatal period, which is uncommon and highlights early detection potential.

## Abstract

Primary immunodeficiency (PID) Disorders include a variable group of diseases that are classified according to the functional defects encountered. Chronic granulomatous disease (CGD) is inherited as an X-linked recessive disorder in many cases, and it is the clinical model of disorders of phagocytosis. Skin and solid organs abscesses are the most common presenting symptoms; we will report the case of a four-day-old boy admitted to our hospital for a neck mass with purulent discharges associated with umbilical stump and circumcision site infection; the diagnosis of CGD was later confirmed by the Dihydrorhodamine (DHR) test that turned out to be positive.