Congenital Neutropenia is a condition that causes patients to be susceptible to recurrent infections, as a result of a deficiency of neutrophils, a type of white blood cell that plays a role in inflammation and fighting infection. This deficiency of neutrophils is apparent at birth or soon afterward, and leads to recurrent infections beginning in infancy. Patients can also develop fevers, and inflammation of the gums (gingivitis) and skin.

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Severe Congenital Neutropenia (SCN) is a disorder of neutrophil production that is characterized by recurrent fever, infections and inflammation of the mouth, skin and pharynx. Another hallmark of these disorders is a predisposition to myelodysplastic syndrome and AML. Diagnosis of these disorders is based on clinical findings and serial measurement of the absolute neutrophil count (ANC). Cyclic neutropenia is distinguished from congenital neutropenia by regular oscillations of the ANC and generally milder infectious complications.

Mutations in the ELANE gene have been reported in 90-100% of cyclic neutropenia patients and 38-80% of congenital neutropenia patients. ELANE-related neutropenia is inherited in an autosomal dominant manner. An autosomal recessive form of SCN (Kostmann Disease) is caused by mutations in the HAX1 gene. In one study, homozygous HAX1 mutations were found in approximately one third of SCN patients without ELANE mutations. In some cases, HAX1 mutations are associated with neurological symptoms. Identification of a mutation in the ELANE gene or homozygous mutations in the HAX1 gene confirms a diagnosis of SCN.