HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY

The hyper immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency characterized by elevated serum IgE with recurrent skin and chest infections. Hyper IgE syndrome exists in both dominant and recessive forms. These two different forms have distinct presentations, courses and outcomes . The autosomal dominant form is mainly due to mutation in STAT3 transcription factor which is associated with additional features of skeletal tissue, connective tissue, dental, vascular and pulmonary abnormalities. The autosomal recessive form is associated with DOCK8 and Tyk2 mutations and absence of connective and skeletal muscle abnormalities but higher incidence of viral infections. Here, we present a two years old male child with skin rashes all over the body, off & on watery diarrhea and failure to gain weight. This patient was diagnosed as a case of coeliac disease at the age of one and half years at some local hospital with one-time assay showing increased anti-tissue transglutaminase antibody (anti TTG) antibodies. Patient was put on gluten free diet for six months but no symptomatic improvement was achieved. Small bowel biopsy showed mild duodenitis without villous atrophy. No organomegaly was detected on ultrasound abdomen. His skin rashes were treated with application of local steroids. Family history revealed that a nephew had undiagnosed diarrhea and skin rashes twenty years back.Blood complete picture, serum immunoglobulins and total IgE, lymphocyte subset analysis and repeat anti TTG antibodies were advised. On the basis of history, family history, examination and immunodeficiency work up final diagnosis of autosomal recessive hyper IgE syndrome (AR-HIES) with partial T lymphocyte deficiency was established.