![]() ![]() Īs with several other primary immunodeficiency diseases, patients with AD-HIES are at increased risk of developing malignancy, particularly non-Hodgkin’s lymphoma. Food allergy was not as common as in DOCK8 deficiency. In a cohort of 70 individuals, nearly two-thirds of those with AD-HIES who underwent gastrointestinal endoscopy had eosinophilic esophagitis as defined by the updated consensus guidelines. Recently, manifestations of gastrointestinal disease in AD-HIES patients have been described. Joint hyperextensibility occurs in more than two-thirds of AD-HIES patient and may contribute to the high frequency of degenerative bone disease. Įxtensive musculoskeletal abnormalities include scoliosis, osteopenia or osteoporosis, minimal trauma fractures, craniosynostosis, and joint hyperextensibility ( Figure 3). Patients also have a high-arched hard palate and palatal and lingual ridges or grooves. Most patients fail to shed their primary teeth, requiring medical removal to allow the secondary teeth to emerge normally. A characteristic facial appearance usually emerges during adolescence with porous skin, a prominent forehead, deep-set eyes, and a bulbous and broad nose ( Figure 3). ĪD-HIES is a multi-system disease with many non-immunologic abnormalities. reported a diminished allergic phenotype in patients with AD-HIES compared to other patients with a comparably elevated IgE and atopic dermatitis, although allergies are more frequent than those with normal IgE levels. ĭespite the very elevated levels of serum IgE characteristic of these patients, allergy and asthma are not typically severe or difficult to manage in AD-HIES. Pneumatoceles and bronchiectasis increase the patients’ susceptibility to difficult to treat microbes, like Aspergillus, Scedosporium, Pseudomonas, and nontuberculous mycobacteria, which contribute significantly to their morbidity and mortality. As with the cold abscesses, AD-HIES patients with pneumonia lack systemic signs of inflammation, including fever, frequently delaying diagnosis leading to parenchymal lung damage ( Figure 2). Streptococcus pneumoniae and Haemophilus influenzae also occur frequently, and the first presentation of pneumonia in infancy may be caused by Pneumocystis jirovecii. aureus being the most common pathogen implicated in the pneumonias. Recurrent sinopulmonary infections generally start in the first several years of life with S. aureus abscesses, which have frank pus when excised despite their lack of dolor, rubor, and calor. Patients with AD-HIES classically have recurrent, “cold” S. The rash usually evolves to resemble an eczematous dermatitis, which is papular, pruritic, lichenified, and typically driven by Staphylococcus aureus colonization and superinfection. Histologically, the skin infiltration is predominantly eosinophils. The clinical features, common infections, laboratory findings, diagnostic methods, and genetic basis of disease of each syndrome will be discussed.Ģ.1.1 Clinical features, infections, and managementĪD-HIES typically presents within the first few days of life as neonatal acne or erythema toxicum neonatorum secondary to the pustular rash that often encompasses the face, scalp, and upper body. ![]() This article reviews several disorders of immune deficiency or dysregulation that have documented eosinophilia as part of the syndrome ( Figure 1). Many of these monogenic diseases are characterized by increased production of Th2 cytokines, such as IL-5, which is an essential promoter of eosinophil differentiation, maturation and survival. Some of these syndromes include clinical manifestations of atopy, such as atopic dermatitis or food allergy, which may contribute to the eosinophilia however the mechanism driving the eosinophilia is not well understood. ![]() While elevated peripheral eosinophilia can be found in patients with parasitic infection, significant atopic disease, drug hypersensitivity reactions, connective tissue disorders, malignancy, and rare hypereosinophilic syndromes, monogenic disorders of immune deficiency or dysregulation should be considered, particularly in the pediatric age group. ![]()
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