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 ....

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Autores principales:	Muhammad Hussain, Muhammad Mukarram Bashsir, Dawood Ahmad, Hamid Nawaz Tipu, Noor Afshan
Formato:	article
Lenguaje:	EN
Publicado:	Army Medical College Rawalpindi 2019
Materias:	coeliac disease hyper ige syndrome Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/34abee61217445899e42bdbbb9c503dc
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spelling	oai:doaj.org-article:34abee61217445899e42bdbbb9c503dc2021-11-15T03:04:56ZHYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY0030-96482411-8842https://doaj.org/article/34abee61217445899e42bdbbb9c503dc2019-04-01T00:00:00Zhttps://www.pafmj.org/index.php/PAFMJ/article/view/2756/2161https://doaj.org/toc/0030-9648https://doaj.org/toc/2411-8842The 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.Muhammad HussainMuhammad Mukarram BashsirDawood AhmadHamid Nawaz TipuNoor AfshanArmy Medical College Rawalpindiarticlecoeliac diseasehyper ige syndromeMedicineRMedicine (General)R5-920ENPakistan Armed Forces Medical Journal, Vol 69, Iss 2, Pp 432-435 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	coeliac disease hyper ige syndrome Medicine R Medicine (General) R5-920
spellingShingle	coeliac disease hyper ige syndrome Medicine R Medicine (General) R5-920 Muhammad Hussain Muhammad Mukarram Bashsir Dawood Ahmad Hamid Nawaz Tipu Noor Afshan HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
description	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.
format	article
author	Muhammad Hussain Muhammad Mukarram Bashsir Dawood Ahmad Hamid Nawaz Tipu Noor Afshan
author_facet	Muhammad Hussain Muhammad Mukarram Bashsir Dawood Ahmad Hamid Nawaz Tipu Noor Afshan
author_sort	Muhammad Hussain
title	HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
title_short	HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
title_full	HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
title_fullStr	HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
title_full_unstemmed	HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY
title_sort	hyper immunoglobulin e ige syndrome (hies) with partial t lymphocytes deficiency
publisher	Army Medical College Rawalpindi
publishDate	2019
url	https://doaj.org/article/34abee61217445899e42bdbbb9c503dc
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HYPER IMMUNOGLOBULIN E IGE SYNDROME (HIES) WITH PARTIAL T LYMPHOCYTES DEFICIENCY

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