Table 3.

Gene function and associated clinical phenotype of identified gene variants.

Patient ID	Gene symbol	Gene function	Associated clinical phenotype	Inheritance	References
P2	NFKB1	Transcription factor	AD Common variable immunodeficiency 12	De novo	(21)
P2	NFKB1
P3	STAT3	Signal transducer and transcription activator	AD Hyper-IgE recurrent infection syndromegayu AD Autoimmune disease, multisystem, infantile-onset, 1	From healthy father, seen in diseased daugther	(22)
P10	TNFAIP3	Zinc finger protein and ubiqitin-editing enzyme	AD Autoinflammatory syndrome, Behcet-like	Unknown	(23, 24)
P11	IL17F	Cytokine	AD candidiasis	Unknown	(25)
P12	IRAK4	Serine/threonine-protein kinase	AR IRAK4 deficiency	Unknown	(26)
P15	TTC37	Involved in exosome-mediated RNA decay*	AR Trichohepatoenteric syndrome 1	Segregates with disease	(27)
P16	DDX41	ATP-dependent RNA helicase*	AD Myeloproliferative/lymphoproliferative neoplasms	Unknown	(28)
P17	NLRC3	Negative regulator of the innate immune response	None reported yet	Unknown
P18	TNFRSF1A	Receptor for TNFSF2/TNF-alpha	AD Periodic fever	Unknown	(29)
P18	PLCG2	Phospholipase	AD Autoinflammation, antibody deficiency, and immune dysregulation syndromegayu Familial cold autoinflammatory syndrome 3		(30, 31)

AD, autosomal dominant; AR, autosomal recessive; XLD, X-linked;

^*Probable function.