NFKB1 and immune system disorder: NF-κB signaling pathways participate in the process of B cell differentiation and function, playing a pivotal role in the pathogenesis of multiple diseases of immune dysfunction [36, 37]. NFKB1 encodes the mature p52 subunit and its precursor p105 subunit, which belongs to the NF-κB transcription factor family, reported to be associated with CVID in multiple consanguine families or sporadic cases [26, 37]. NFKB1 mutations have an autosomal dominant inheritance with an incomplete penetrance, since the variants were also found in unaffected family members [37].