A Novel TTC7A Deficiency Presenting With Combined Immunodeficiency and Chronic Gastrointestinal Problems
نویسندگان
چکیده
منابع مشابه
A case of severe combined immunodeficiency presenting with CMV pneumonia
A five month-old girl was admitted in Ali Asghar Children’s Hospital with a history of three months of fever, cough and dyspnea that her symptoms have exacerbated since two weeks before admission. She was the first child of the family born to consanguineous parents. She was clinically healthy in the past and had gained weight normally and undergone vaccination program with no complication unti...
متن کاملMultiple Intestinal Atresia With Combined Immune Deficiency Related to TTC7A Defect Is a Multiorgan Pathology
Hereditary multiple intestinal atresia (HMIA) is a rare cause of intestinal obstruction in humans associated with a profound combined immune deficiency. Deleterious mutations of the tetratricopeptide repeat domain-7A (TTC7A) gene lead to HMIA, although the mechanism(s) causing the disease in TTC7A deficiency has (have) not yet been clearly identified. To evaluate the consequences of TTC7A defic...
متن کاملSevere combined immunodeficiency presented with septic arthritis: A case report
Severe combined immunodeficiency is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T-lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. Without intervention, the T and B-cell dysfunction usually results in severe infection and death in ...
متن کاملWhole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
BACKGROUND Combined immunodeficiency with multiple intestinal atresias (CID-MIA) is a rare hereditary disease characterized by intestinal obstructions and profound immune defects. OBJECTIVE We sought to determine the underlying genetic causes of CID-MIA by analyzing the exomic sequences of 5 patients and their healthy direct relatives from 5 unrelated families. METHODS We performed whole-ex...
متن کاملChronic Inflammatory Demyelinating Polyneuropathy in a Patient with Adenosine Deaminase Deficiency Severe Combined Immunodeficiency: Case Report
Adenosine deaminase deficiency is a type of severe combined immunodeficiency that involves about 15% of all SCID cases. This form of SCID has low B cells, T cells, and NK cells. This condition is complex with many possible complications including neurological abnormalities. Guillainbarré syndrome is an acute inflammatory disease of the peripheral nerves that involves an autoimmune attack on mye...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigational Allergology and Clinical Immunology
سال: 2018
ISSN: 1018-9068
DOI: 10.18176/jiaci.0290