Clinical Features and Genetic Analysis of Autosomal Dominant and Recessive Hyperimmunoglobulin E Syndrome / 罕见病研究

  Objective  To summarize the clinical and genetic features of children with autosomal dominant and recessive hyperimmunoglobulin E syndrome (HIES).  Methods  HIES patients were studied at the dermatology department of Beijing Children's Hospital, Capital Medical University were collected, from January 2013 to December 2021, diagnosed by both clinical manifestation and genetic assessment. The general data were summarized, the clinical and genetic characteristics were analyzed, and the similarities and differences between autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES) were compared.  Results  A total of 7 children with HIES were studied, including 3 cases of AD-HIES and 4 cases of AR-HIES. There were 4 males and 3 females. All children had recurrent eczema-like lesions, recurrent skin and pulmonary infections, and elevated serum IgE and eosinophil levels. The differences between AD-HIES and AR-HIES mainly include: the main cutaneous infection in 3 children with AD-HIES were bacterial infections (such as abscess and impetigo), while in 4 children with AR-HIES, cutaneous infections were mostly severe viral infection (such as verruca vulgaris and molluscum contagiosum). There were pulmonary parenchymal changes (such as pneumatoceles, cyst and atelectasis) in 3 children with AD-HIES, whilst there were no similar changes in the lungs of 4 children with AR-HIES; 75% of children with AR-HIES had allergic diseases (including asthma and food allergy), while there were no reports of allergic diseases in children with AD-HIES. As for manifestations outside of immune system, AD-HIES was more likely to appear facial dysmorphism(such a broad nasal bridge and a high-arched palate). Furthermore, the incidence of tumor in AR-HIES was higher than that in AD-HIES. AD-HIES was mainly caused by the mutation of STAT3 gene, and AR-HIES was mainly caused by the mutation of DOCK8 gene. We reported two new mutation sites of DOCK8 gene c.1798-2A > T and c.874G > A in two cases, respectively.  Conclusions  For children with clinical manifestations of recurrent eczema-like lesions, repeated infection and significant increase in serum IgE levels, HIES should be suspected, and genetic screening should be carried out to make definite diagnosis and classification, to achieve better long-term management and improve prognosis.

A Case of Hyperimmunoglobulin E Syndrome Presenting as Infantile Eosinophilic Pustular Folliculitis / 대한피부과학회지

No abstract available.

Hyperimmunoglobulin E syndrome in adult patients: a case report and literature review / 中华全科医师杂志

The clinical manifestations,laboratory test results,treatments and prognoses of 5 adult patients with hyperimmunoglobulin E syndrome (HIES) were retrospectively analysed.All 5 patients experienced disease onset within 1 year of birth and had recurrent multiple infections,all had recurrent rash and 4 had skeletal abnormalities.Recurrent infections lasted for a mean of 19.6 years and predominantly affected the skin and respiratory tract.Other manifestations included chronic otitis media,renal abscess and osteomyelitis.Two cases had skin abscess (methicillin-susceptible Staphylococcus aureus infection),which was alleviated after antibiotic treatment and abscess drainage.Two cases had respiratory tract infection and one case had a foot skin ulcer,and all symptoms improved after antibiotic treatment.HIES should be suspected when an adult patient experiences repeated infection since birth,particularly when skeletal abnormalities and a history of neonatal rash is also present.Early diagnosis facilitates targeted anti-infection therapy,leading to earlier remission and an improved prognosis.

Síndrome de hiperinmunoglobulinemia E: Reporte de dos casos / Hyperimmunoglobulin E syndrome: report of two cases

Introducción. El síndrome de hiperinmunoglobulinemia E es una inmunodeficiencia sistémica poco frecuente, caracterizada por dermatitis eccematosa, abscesos fríos recurrentes, infecciones pulmonares con formación de neumatoceles, facies tosca, niveles elevados de inmunoglobulina E (IgE) en suero y eosinofilia. Casos clínicos. Caso 1. Femenino de 11 años de edad con antecedentes de neumonía recurrente, gastroenteritis de repetición, dermatitis eccematosa de predominio en pliegues, y abscesos fríos; en estudios de laboratorio destacó el hallazgo de 16 070 eosinófilos e IgE de 4 864 Ul. Manejada con gammaglobulina se observó buena respuesta clínica. Caso 2. Femenino de 12 años de edad con historia de otitis recurrente y conjuntivitis supurativa, presentaba eccema crónico generalizado e impetiginizado. En estudios de laboratorio se reportó IgE de 3 000 UI; fue manejada con dapsona, trimetropim/sulfametoxazol y metotrexate. Conclusión. Los 2 casos aquí informados presentaron piel eccematosa, infecciones recurrentes e incremento de los niveles de IgE, compatibles con síndrome de hiperinmunoglobulinemia E en la forma autosómica recesiva.

Background. Hyperimmunoglobulin E syndrome is a rare systemic immunodeficiency characterized by eczematous dermatitis, recurrent cold abscesses, lung infections with pneumatoceles, coarse facial appearance, high IgE levels and eosinophilia. Case reports. Case 1: We report the case of an 11-year-old female with a history of recurrent lung infections, recurrent gastroenteritis, eczematous dermatitis affecting the skin folds and cold abscesses. Laboratory studies showed elevated eosinophils (16 070) and IgE 4864 IU. The patient received treatment with g-globulin, showing adequate clinic response to treatment. Case 2: We present the case of a 12-year-old female with a history of recurrent otitis and suppurative conjunctivitis, showing widespread and chronic infected eczema. Laboratory studies showed elevated IgE (3 000 IU). She was treated with dapsone, trimethoprim/sulfamethoxazole and methotrexate. Conclusions. We presented two patients with eczematous skin, recurrent infections and increased IgE levels, which are compatible with hyperimmunoglobulin E autosomal recessive syndrome.

Pulmonary Features of Hyperimmunoglobulin E (Job's)syndrome / 결핵

Hyperimmunoglobulin E syndrome, otherwise known as Job's syndrome, is an immune disorder characterized by an abnormal elevation of the circulating immunoglobulin E level, and recurrent infections of the skin and sinopulmo nar tract. The syndrome has various ppulmonary featurea, e.g., pneumonia, pneumatocele, pneumothorax, lung abscesses and empyema. We report a case of hyperimmunoglobulin E syndrome, with various respiratory clinical manifestation. Medical therapy, including prophylactic antibiotics, has been the cornerstone for the treatment of hyperimmunoglobulin E syndrome. Even if surgical intervention is required, minimal pulmonary parenchymal resection is recommended.

Hyperimmunoglobulin E-recurrent infection syndrome in a patient with juvenile dermatomyositis

A 13-year-old girl presented with multiple skin abscesses. She was diagnosed as having juvenile dermatomyositis (DM) at the age of 7 years. She had suffered from recurrent skin infections, atypical pruritic dermatitis and pneumonia since the age of 8 years. Bacteriologic and fungal cultures for skin abscesses and oral mucosa were positive S. aureus and C. albicans, respectively. Chemotactic defect in peripheral blood neutrophils was observed. The level of serum IgE was markedly elevated, and anti-S.aureus specific IgE was found. A diagnosis of hyperimmunoglobulin E-recurrent infection syndrome (HIE) was made and she was successfully treated with surgical drainage and antibiotics. To our knowledge, this is the first case report of HIE in a patient with juvenile dermatomyositis.

Colon Perforation in Hyperimmunoglobulin E Syndrome: A Case Report

Hyperimmunoglobulin E syndrome is a relatively rare primary immunodeficiency syndrome characterized by recurrent infection, abscess formation and marked elevation of serum IgE level. The common infectious organism is Staphylococcus aureus and recurrent infection indicates some defects in the immunologic system. Although the infection can affect various organs, gastrointestinal tract involvement is rare and only one case of colon perforation has been previously reported. Herein we report another one case of colon perforation which ocurred in an 8-year-old girl with hyperimmunoglobulin E syndrome. The patient was admitted to the hospital due to an abscess on right neck. The diagnosis of hyperimmunoglobulin E syndrome was made because she had eczematoid dermatitis on the face, pneumatocele on left upper lung field and markedly elevated serum Ig E level(> 15,000 IV/ml) with a past histories of frequent scalp abscesses and otitis media. Abdominal pain developed on the 13th day of admission and abdominal plain X-ray revealed free air. An exploratory laparatomy was performed and two free perforations of the transverse colon were noted. Segmental resection and double barrel colostomy were performed. Colostomy closure was done 4 month later and she had no gastrointestinal problem during a follow up period of 15 months.

A case of hyperimmunoglobuline E syndrome

The hyperimmunoglobulin E syndrome is a primary immunodificiency disorder characterized by recurrent staphylococcal infections and markedly elevated serum IgE level. Clinical features are coarse face and severe infections of the skin-furunculosis or chronically pruritic dermatitis and sinopulmonary tract infection from infancy by coagulase positive Staphylococcus aureus, or Candida albicans etc. The patients's serum IgE level is elevated but the basic immunologic pathogenesis not fully understood. We have experienced a case of hyperimmunoglobulin E syndrome in a 26/12-year-old who had suffered from recurrent staphylococcal pneumonias and abscesses and chronically pruritic dermatitis from 1 month of age with elevated serum IgE level. A brief review of the related literature is presented.

A case of hyperimmunoglobulin E syndrome

No abstract available.