top of page



22q11.2 Deletion Syndrome


22Q11.2 Deletion Syndrome - Patients may develop tetany during the newborn period due to hypocalcemia.  The parathyroid hormone level is very low and the phosphorus level is very elevated.




CINCA (NOMID) - Patients are characterized by recurrent fevers with urticaria, arthritis, and severe neurological symptoms (seizures, mental retardation, cerebral atrophy, and sensorineural hearing loss).  


Biotinidase Deficiency


Biotinidase deficiency - This condition results in impaired humoral and cell-mediated immunity. Mucocutaneous candidiasis and systemic bacterial/viral infections occur.  Neurologic features include seizures, developmental delay, ataxia, and hypotonia.  Dermatitis and alopecia also occur. These symptoms improve with dietary biotin supplementation.  


Adenosine Deaminase Deficiency


Adenosine Deaminase Deficiency - Patients may develop neurologic symptoms including seizures, developmental delay, hypotonia, and head lag.  These symptoms may improve following treatment with PEG-ADA therapy.  


Chediak Higashi Syndrome


Chediak-Higashi syndrome - Patients develop neurologic abnormalities including peripheral neuropathy (causing weakness and sensory deficits), cerebellar ataxia, seizures, cranial nerve palsies, and developmental delay.  Older patients who survive to the second or third decade may require a wheelchair due to poor balance and weakness. ​



Griscelli Syndrome Type 2


Griscelli syndrome type 2 - Patients may have neurologic abnormalities including seizures, ataxia, dysarthria, hemiplegia, and developmental delay. This disease is also characterized by mild neutropenia, impaired CD8 and NK cell cytotoxicity, oculocutaneous hypopigmentation, and a predisposition to develop hemophagocytic lymphohistiocytosis. 

bottom of page