Location: 17q21.31
Inheritance: autosomal recessive
Neutropenia may be an isolated finding or associated with additional clinical findings.
Classic G3PC3 deficiency has:
(1) cardiovascular abnormalities (atrial septal defect, patent foramen ovale, cor tiratriatum, etc)
(2) urogenital abnormalities (cryptorchidism, hydronephrosis, poor cortico-medullary differentiation, etc)
(3) failure to thrive with poor postnatal growth
Severe G3PC3 deficiency (Dursun syndrome):
(1) clinical features of classic G3PC3 deficiency
(2) anemia and thrombocytopenia
(3) pulmonary hypertension
(4) inflammatory bowel disease
(5) endocrine disorders (growth hormone deficiency, hypogonadotropic hypogonadism)
(6) severe lymphopenia and thymic hypoplasia
The patient usually has the early onset of severe bacterial infections.
