Hyperimmunoglobulinemia E syndrome in Child
The "cold abscesses" in autosomal dominant hyper-IgE syndrome (Job syndrome) occur due to impaired IL-6 transduction and PGE2 release in the brain. This is not a usual feature in DOCK8 deficiency, where low IgM levels may be identified.
Patients with CARD11 mutations resemble those with DOCK8 mutations; however, incidence of viral infections and malignancy is lower and severe cases of molluscum contagiosum occur. Autoimmune colitis, primary ovarian failure, T-cell lymphoma, and lichen planus have been associated with the CARD11 mutations.
Pathogens associated with the infections include Staphylococcus aureus, most frequently, followed by Haemophilus influenzae, Streptococcus pyogenes, Escherichia coli, Pseudomonas, and Candida albicans. There is impaired chemotaxis in neutrophils, and retention of primary dentition may occur due to STAT-3's influence on IL-11, a necessary factor for dental exfoliation.
There is a National Institutes of Health (NIH) scoring system to assist in making this diagnosis. Scores greater than 40 on this scale indicate a high probability of the diagnosis.
D82.4 – Hyperimmunoglobulin E [IgE] syndrome
50926003 – Hyperimmunoglobulin E syndrome
Differential Diagnosis & Pitfalls
- Eosinophilic pustular folliculitis
- Bacterial cellulitis / abscess
- Atopic dermatitis
- Diaper dermatitis
- Bullous impetigo
- Non-bullous impetigo
- Infantile acne
- Demodex folliculitis
- Acropustulosis of infancy
- Transient neonatal pustular melanosis
- Infantile pustular psoriasis
- Cimex infestations
- Arthropod assault (especially Solenopsis invicta: fire ants)
- Wiskott-Aldrich Syndrome
- Omenn / incomplete DiGeorge syndrome
- IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome
- Prolidase deficiency
- Child abuse: Recurrent fractures associated with autosomal dominant hyper-IgE syndrome may be misconstrued as child abuse.