Table 1.

Novel IEIs with atopic manifestations – diagnostic features, atopic prevalence and clinical pitfalls

	References	Total cases described	Age of diagnosis (years)	Key features	Atopic features	Clinical pitfalls
STAT6 GOF	Sharma et al.[2▪▪]	16	3–60	Early-onset atopy within the first year of life Treatment resistant atopy Recurrent viral infections Recurrent skin and respiratory infections	Eczema Food allergies Asthma Eosinophilic gastrointestinal (GI) disease Anaphylaxis Eosinophilia Elevated IgE	Lymphoma risk
RLTPR	Wang et al.[7]: six patients Shober [8]: four patients Yonkof [9]: two patients Sorte [10]: four patients Maccari [11]: one patient Anas M Alazami et al.[12]: seven patients Kurolap et al.[13]: one patient Magg et al.[14]: five patients Atschekzei [15]: three patients	Greater than 10	Not reported	Combined immunodeficiency (CID) Recurrent bacterial fungal and mycobacterial infections Skin infections e.g. molluscum, diffuse warts from Human papillomavirus (HPV) infection and abscesses Respiratory tract infections	Eczema Eosinophilic oesophagitis High IgE Asthma Food allergy Cold urticaria	Epstein–Barr virus (EBV) lymphoproliferation
IKZF1	Hoshino et al.[1▪▪]	8	over 40	Autoimmunity (diabetes, colitis, thyroiditis) Lymphoproliferation Plasma cell expansion Evans Syndrome Recurrent infections, Immune dysregulation	Food allergy Asthma Rhinitis Dermatitis Eosinophilic oesophagitis	IgG4-related disease (3/8)
NCKAP1L LOF	Cook et al.[16] Castro et al.[17]	9	15 months – 11 years	Autoinflammatory Recurrent upper respiratory tract infection (URTI) Skin abscesses	Eczema Elevated IgE
MSN	Lagresle-Peyrou et al.[18] and Fang et al.[19]	16	Not reported	Recurrent infections with bacteria and varicella and molluscum contagiosum Neutropenia Decreasing immunoglobulin over time	Eczema Atopic dermatitis	Very Early Onset Inflammatory Bowel Disease (VEOIBD) (1 case report)