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Year : 2020  |  Volume : 8  |  Issue : 3  |  Page : 129-130

The clinical relevance of Hyper Immunoglobulin E Syndrome in Ophthalmology

1 Jothi Eye Care Centre, JIPMER, Puducherry, India
2 H.O.D., Department of Ophthalmology, Pondicherry Institute of Medical Sciences, Puducherry, India

Date of Submission17-Mar-2020
Date of Decision28-May-2020
Date of Acceptance23-Sep-2020
Date of Web Publication4-Dec-2020

Correspondence Address:
Rajalakshmi Selvaraj
Jothi Eye Care Centre, Puducherry - 605 001
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcor.jcor_23_20

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How to cite this article:
Selvaraj R, Srinivasan R. The clinical relevance of Hyper Immunoglobulin E Syndrome in Ophthalmology. J Clin Ophthalmol Res 2020;8:129-30

How to cite this URL:
Selvaraj R, Srinivasan R. The clinical relevance of Hyper Immunoglobulin E Syndrome in Ophthalmology. J Clin Ophthalmol Res [serial online] 2020 [cited 2022 Jul 1];8:129-30. Available from: https://www.jcor.in/text.asp?2020/8/3/129/302195


A young boy presented with a unique presentation of generalized molluscum contagiosum [Figure 1]a. Visual acuity measured was 6/36 in the right eye and 4/60 in the left eye. The right eye had large molluscum papules at the lid margin with a paracentral corneal haze. The left eye with mechanical ptosis and entropion [Figure 1]b showed inferior corneal infiltrates due to trichiasis. Electrolysis was performed to relieve his symptoms of trichiasis.
Figure: 1: (a) Multiple, variable-sized, violaceous, confluent papules and nodules with umblication along the eyelids, ear lobule, face, and submandibular region, suggestive of molluscum contagiosum. (b) Large confluent lesions leading to mechanical ptosis and entropion

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The clinical suspicion owing to generalized and severe molluscum affection was human immunodeficiency virus (HIV). However, to our surprise, his HIV status was negative. Being a child, the next striking differential diagnosis would be primary immunodeficiency disorders. Other systemic findings were atopic dermatitis, recurrent scalp abscess, ear discharge, oral candidiasis, and lung consolidation negative for tuberculosis. Pediatric and dermatology workup revealed it to be Hyper Immunoglobulin E Syndrome (HIES) with probable Dedicator Of CytoKinesis 8 gene (DOCK8) deficiency. He was started on interferon-alpha which led to abscess formation over the lesions. Hence, interferons were withheld and started on appropriate antibiotics.

The HIES are rare primary immune deficiencies characterized by elevated serum immunoglobulin E (IgE), dermatitis, and recurrent skin and lung infections. There are two forms of HIES: a dominant form caused by mutations in signal transducer and activator of transcription 3 gene (STAT3) and a recessive form with DOCK8 deficiency.

Hyper-IgE recurrent infection syndrome was first described as Job’s syndrome by Davis et al. in 1966, referring to the Biblical Job, who was “smote with sore boils.”[1] Since then, the classic triad of eczema, recurrent skin and lung infections, and high serum IgE was considered the spectrum of autosomal dominant HIES. The serum IgE typically peaks above 2000 IU/ml, and is usually elevated even at the time of birth.[2]

It was in 2004 that Renner et al. described a similar disease of elevated IgE in consanguineous families with DOCK8 deficiency. They were highly susceptible to viral skin infections, including severe Molluscum contagiosum infection, warts, herpes zoster, and recurrent herpes simplex infections.[3] There is higher mortality at a younger age in DOCK8 deficiency when compared to that of autosomal dominant variety, with death often occurring before the age of 20.

These two different syndromes have distinct presentations and courses.

  • Autosomal dominant HIES-STAT3 deficiency: Recurrent skin abscesses; eczema; and skeletal, dental, and lung abscesses with pneumatocele formation
  • Autosomal recessive HIES-DOCK8 deficiency: Recurrent skin infections especially viral; central nervous system involvement; vasculitis; and no pneumatocele or dental and skeletal abnormalities.

Management is with appropriate use of antibiotics for skin infection and inhalational steroids for allergies. Replacement immunoglobulin therapy does not improve viral infections. Hematopoietic stem cell transplantation has recently been reported to resolve recurrent molluscum infection.[4]

This letter describes a unique clinical feature of autosomal recessive-HIES. The absence of skeletal deformity and presence of generalized viral warts differentiate it clinically from Job’s syndrome (autosomal dominant HIES). Thus HIES is an unfamiliar differential in ophthalmology to be borne in mind.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Davis SD, Schaller J, Wedgwood RJ 1966 Job’s syndrome. Recurrent, “cold” staphylococcal abscesses. Lancet 1:1013–1015.  Back to cited text no. 1
Buckley RH, Wray BB, Belmaker EZ 1972 Extreme hyperimmunoglobulinemia E and undue susceptibility to infection. Pediatrics 49:59 –70.  Back to cited text no. 2
Renner ED, Puck JM, Holland SM, Schmitt M, Weiss M, Frosch M, et al. Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity. J Pediatr 2004;144:93–99.  Back to cited text no. 3
Gatz SA, Benninghoff U, Schütz C, Schulz A, Hönig M, Pannicke U, et al. Curative treatment of autosomal recessive hyper IgE syndrome by hematopoietic cell transplantation. Bone Marrow Transplant 2011;46:552 6  Back to cited text no. 4


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