Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease

                 

IVIG Anaphylaxis in a patient with Common variable immune deficiency disease (CVID).

Common variable immune deficiency disease (CVID) is one of the most common primary immunodeficiency disorders. It causes reduction of immunoglobulin levels and specific antibodies production and enhancement of recurrent and chronic infections risk, especially respiratory infections and gastrointestinal tracts. Here, we report a case of CVID in a 3 years old male with recurrent hospitalizations ...

Whole Exome Sequencing Reveals a XPNPEP3 Novel Mutation Causing Nephronophthisis in a Pediatric Patient

Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...

Undefined and fatal meningoenchephalitis in a patient with combined immune deficiency: a case report

Background Encephalitis is defined by the presence of brain inflammation associated with clinical evidence of neurological dysfunction. It can be due to infection (most common cause is viruses) or not (like post vaccine or auto immune). Primary immunodeficiency is defined as a genetic basis that leads any alteration in immune system (innate or adaptative) predisposing to infections, auto immuni...

a novel pkd1 mutation in a patient with autosomal dominant polycystic kidney disease