Siblings With Thrombocytopenia Found To Have a Pathogenic Variant in the NFkB1 Gene

Immune thrombocytopenic purpura is one of the most common causes of low platelet count in the pediatric population. Secondary thrombocytopenia has a wide differential diagnosis in children, including rheumatological, hematological, and immunological etiologies. Underlying etiologies must be excluded if suspected before labeling the patient as primary thrombocytopenia. Here, we report two siblings with persistent and profound thrombocytopenia. A 10-year-old girl presented with profound and treatment refractory thrombocytopenia. Given the patient's family history of thrombocytopenia of unknown pathology in her older brother, immune dysregulation-related thrombocytopenia was suspected. Whole exome sequencing confirmed a previously reported pathogenic variant in the NFKB1 gene linked to common variable immunodeficiency 12 (CVID-12) diagnosis for both patients.