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Chest Infections |

A Novel Case of Hyper IgE Syndrome Combined With Natural Killer Cell Deficiency

Xiaolei Zhang, MD; Huaping Dai, MD; Yan Liu, MD
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Beijing Institute of Respiratory Medicine, Beijing, China


Chest. 2014;145(3_MeetingAbstracts):114A. doi:10.1378/chest.1835194
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Abstract

SESSION TITLE: Infectious Disease Case Reports Posters III

SESSION TYPE: Case Report Poster

PRESENTED ON: Sunday, March 23, 2014 at 01:15 PM - 02:15 PM

INTRODUCTION: The Hyper IgE Syndrome (HIES) is a rare, complex primary immunodeficiency. Here we report a case of HIES combined with natural killer cell deficiency, which has not been documented in the literature before.

CASE PRESENTATION: A 20-year-old male patient was admitted to hospital with cough, dyspnea and low-grade fever. He had suffered from oral thrush at birth and scalp boils during childhood. He had a long history of refractory eczema, as well as recurrent pneumonia . Six months ago, he was discharged from another hospital with the diagnosis of pneumocystis carinii pneumonia (PCP). He was found to be infected with lymph nodes tuberculosis at 8 years old and hepatitis B virus and hepatitis C virus at 12 years old. Physical examination revealed the characteristic coarse features in the physiognomy with a predominant forehead, a wide alar base to the nose and a wide outer canthal distance. Complete blood panels revealed leukocytosis with marked eosinophil. Immunological investigations revealed grossly elevated serum immunoglobulin (Ig) E levels of more than 2000 IU/L. Lymphocytes and respective subsets analyses revealed a marked reduction of natural killer (NK) cells to 0.7-1.1% (19-37/ul). Assays of NK cell function showed that the positive cells percentage of both perforin (85.6%) and granzyme B (87.9%) were normal. Genetic study found a known STAT3 mutation (R382W) affecting the DNA-binding domain.

DISCUSSION: Typically, patients with HIES have normal levels of NK cell count.In our patient, the HBV and HCV persists high level replica in spite of aggressive antivirus therapy. Although we don’t know whether the NK cell defect preceded the HBV and HCV infections, we assume that the reduction in NK cells may be a cause of his immunological weakness. Because our patient also has a history of tuberculosis and PCP, both of which are not frequently seen in isolated HIE.

CONCLUSIONS: We present a case of HIES, combined with a markedly reduced natural killer cell population. This case may highlight the need of NK cells evaluation whenever an autoimmunity, immunoincompetency or immunodeficiency investigation is undertaken.

Reference #1: Hyper-IgE syndrome. Minegishi Y. Curr Opin Immunol. 2009; 21(5):487-92.

Reference #2: Orange JS. Human natural killer cell deficiencies. Curr Opin Allergy Clin Immunol. 2006; 6(6):399-409.

Reference #3: Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, et al. Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. e (Baltimore). 2012; 91(4):e1-19.

DISCLOSURE: The following authors have nothing to disclose: Xiaolei Zhang, Huaping Dai, Yan Liu

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