Common variable immune deficiency (CVID) is one of the most common types of primary immune deficiencies (PIDs) which represents a potpourri of various diseases with a different underlying mutation which has common features. The clinical presentation does not necessarily point at a specific underlying defect and genetic study should be granted to every PID patient which might help in treatment and prognosis.
After consent, history and review of the patient’s chart were done.
We are reporting a 17-year-old Saudi female diagnosed with common variable immune deficiency. She had a history of recurrent Idiopathic Thrombocytopenic Purpura at childhood. She had bronchiectasis due to recurrent lower respiratory infections. Furthermore, during adolescence, she had chronic intermittent diarrhea, unintentional weight loss, renal insufficiency, and generalized lymphadenopathy. However, lymph node biopsy was negative for Tuberculosis, viral, or malignancies like lymphoma. She had Sagittal sinus thrombosis, neurodegenerative disease which was complicated with epilepsy. During hospitalization, she had CMV viremia responded to Ganciclovir. Investigations showed leukocytosis, thrombocytosis, and panhypogammagllobinemia. MRI brain showed active demyelinating inflammatory white matter disease.
whole exome sequencing showed missense genetic mutation of NFkB1 (NFKB1: NM_001165412:exon17:c.1913A>T:p .K638I).
NFkB1 missense monogenetic mutation (OMIM: 616576) in CVID patients showed a very progressive course in most of the patients who identified before. However, in our patient it was associated with the autoimmune neurodegenerative disease this may be explained by a variable presentation of the disease even in the same family. WES is able to release an early diagnosis that predicts and improves morbidity and prognosis of suspected manifestations.