A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis

• Published in: Clinical immunology (Orlando, Fla.) Vol. 223; p. 108645
• Main Authors: Kasap, Nurhan, Celik, Velat, Isik, Sakine, Cennetoglu, Pakize, Kiykim, Ayca, Eltan, Sevgi Bilgic, Nain, Ercan, Ogulur, Ismail, Baser, Dilek, Akkelle, Emre, Celiksoy, Mehmet Halil, Kocamis, Burcu, Cipe, Funda Erol, Yucelten, Ayse Deniz, Karakoc-Aydiner, Elif, Ozen, Ahmet, Baris, Safa
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.02.2021
• Subjects: DOCK8 deficiency; Hyper-IgE syndrome; Severe atopic dermatitis; STAT3 deficiency; Hyper-IgE syndrome; STAT3 deficiency; DOCK8 deficiency; Severe atopic dermatitis
• ISSN: 1521-6616; 1521-7035
• DOI: 10.1016/j.clim.2020.108645

Hyper-IgE syndrome (HIES) patients may share many features observed in severe atopic dermatitis (SAD), making a diagnostic dilemma for physicians. Determining clinical and laboratory markers that distinguish both disorders could provide early diagnosis and treatment. We analyzed patients (DOCK8 deficiency:14, STAT3-HIES:10, SAD:10) with early-onset SAD. Recurrent upper respiratory tract infection and pneumonia were significantly frequent in HIES than SAD patients. Characteristic facial appearance, retained primary teeth, skin abscess, newborn rash, and pneumatocele were more predictable for STAT3-HIES, while mucocutaneous candidiasis and Herpes infection were common in DOCK8 deficiency, which were unusual in SAD group. DOCK8-deficient patients had lower CD3+ and CD4+T cells with a senescent phenotype that unique for this form of HIES. Both DOCK8 deficiency and STAT3-HIES patients exhibited reduced switched memory B cells compared to the SAD patients. These clinical and laboratory markers are helpful to differentiate HIES from SAD patients. •AD can appear as a main component of immunodeficiencies and may be the presenting manifestation for HIES patients.•The major warning features of STAT3-HIES are increased rate of infections, newborn rash and non-immune manifestations.•Wide spectrum of infections and lymphopenia with T cell senescence profile are common in DOCK8 deficiency.•Integrated clinical and laboratory markers are useful in predicting the underlying genetic defect in HIES.•Integrated clinical and laboratory markers are useful in predicting the underlying genetic defect in HIES.