HIES/Job’s syndrome is a rare immune disorder characterized by skin lesions, elevated IgE‐levels, recurrent skin/sinopulmonary infections, and skeletal abnormalities. We report a case of severe atopic dermatitis with elevated IgE levels mimicking HIES/Job’s syndrome.
21 yo female with a h/o multiple MRSA‐related skin abscesses and sinusitis/pneumonia presented with exacerbation of atopic dermatitis and MRSA abscesses of the face, trunk & extremities. She complained of fatigue, congestion and sinus pressure. Skin showed peri‐orbital discoloration/puffiness with red, partially excoriated papules on the lip and left nipple. CXR revealed central peri‐bronchial cuffing. CT sinuses demonstrated opacification of the ethmoid sinuses with moderate mucosal thickening of the maxillary sinuses and infundibulum occlusion. She was found to have low normal Serum IgG‐3 antibodies and low Serum IgG‐4 antibodies. Her IgE levels were found to be markedly elevated at 3381 mg/dl which had increased from 2380 mg/dl in the prior 2 months. Pre and post Pneumovax, antipneumococcal antibody levels revealed an appropriate rise in titers consistent with a normal response to antigenic challenge. On the basis of the combination of markedly elevated IgE levels, recurrent MRSA skin infections, and a lifelong history of recurrent infections such as asthma and atopy, she appeared to fit the clinical phenotype for Job’s syndrome by scoring 36 on the NIH scoring criteria for the diagnosis of HIES/Job’s syndrome however her TH17 cell counts (which usually is decreased in STAT‐3 mutation‐related HIES) was found to be normal. She was extensively treated with antibiotics for her infections and discharged from the hospital.
Job’s Syndrome/HIES is a rare multisystem primary phagocytic disorder affecting the dentition, skeleton, connective tissue and immune system. It is typically inherited as a single locus autosomal dominant trait with variable expressivity. Although this patient had no dentition or skeletal abnormalities, her lifelong history of MRSA skin abscesses and sino‐pulmonary infections with markedly elevated IgE levels mimics the clinico‐pathological findings of HIES/Job’s Syndrome.
Before the development of NIH criteria, HIES diagnosis was primarily made through classic triad of recurrent skin boils, cyst‐forming pneumonias, and elevated IgE levels. But now the combination of high clinical suspicion, signs and symptoms and molecular genetic testing can be used to confirm the diagnosis.
NIH scoring system that includes both immunologic/infectious and non‐immunologic manifestations weighted to reflect the severity of a finding should always be used whenever there is a high clinical suspicion but STAT‐3 mutation is the gold standard for diagnosis. This is an expansive and not widely available test but till date is the only test that can reliably diagnose HIES/Jobs syndrome.
Recurrent sinopulmonary infections with dermal involvement raise a suspicion of HIES/Jobs syndrome but it should always be confirmed with genetic testing for correct diagnosis and management of the patient.
To cite this abstract:Bajwa M, Chatha I. Severe Atopic Dermatitis with Elevated Igg Levels Masquerading Job’s Syndrome. a Case Report. Abstract published at Hospital Medicine 2014, March 24-27, Las Vegas, Nev. Abstract 335. Journal of Hospital Medicine. 2014; 9 (suppl 2). https://www.shmabstracts.com/abstract/severe-atopic-dermatitis-with-elevated-igg-levels-masquerading-jobs-syndrome-a-case-report/. Accessed August 17, 2019.