Background and Aims

Chronic Granulomatous Disease (CGD) is a well – known form of Primary Immune Deficiency Disorders (PIDD) where the neutrophils fails to perform intracellular killing of the organisms. These patients are highly susceptible to infections due to catalase +ve bacteria, Mycobacteria and fungal infection and Autoimmunity. They develop cutaneous as well as deep seated infections. CGD usually diagnosed by performing NBT test or more accurate OXIDATIVE BURST and we need genetic testing rarely. CGD is due to mutation in the different components:

Although Rare types of CGD might be associated with Normal Oxidative burst. In this case high clinical suspension should be confirmed by molecular genetic testing.

Methods

This is a case series report, the Index case was a 12 years old brother who has recurrent infections and Autoimmunity diagnosed by PID panel requested after the diagnosis of CGD

PID panel sent for the rest of the family members found in another 2 siblings a boy and a girl.

Results

Oxidative burst was either normal or near normal in this family.

The PID panel showed the following mutation:

Variant: NCF4:NM_000631:exon5:c.407C>A:p.S136X -- (HOMOZYGOUS)

Strikingly that this family with CGD due to mutation in the P40 component of NADPH.

Conclusions

High clinical suspicion of Primary immune deficiency should warrant molecular genetic testing especially when routine immunological workup fail short to help in the diagnosis and thus treatment. Here we report a rare form of CGD were the gold standard test for diagnosis is oxidative burst was Normal or near normal.