Hyper IgE syndrome (HIES) is a rare immunodeficiency syndrome, with autosomal dominant inheritance, caused mainly due to STAT 3 mutation. The affected children usually present atopic dermatitis, recurrent staphylococcal infections, phenotypic characteristics and increased levels. Though, there case report of autoimmune thyroiditis in HIES, congenital hypothyroidism not reported. Here we HIES ty...

Severe congenital neutropenia includes a variety of hematological disorders characterized by severe neutropenia with absolute neutrophil counts (ANCs) below 500/ml and associated with severe systemic bacterial infections from early infancy. The genetic basis of many of the inherited forms of congenital neutropenia have been documented. Genetic alterations have also been identified in multifacet...

Unilateral pulmonary artery agenesis (UPAA) is a rare congenital anomaly due to a malformation of the sixth aortic arch of the affected side during embryogenesis. It can occur in isolation or may be associated with other congenital cardiovascular malformations. The diagnosis is usually set at adolescence, however it can remain asymptomatic and late diagnosis is possible. Recurrent pulmonary inf...

Only some fifty cases of gangrene in infants have been recorded in the literature, and the vast majority of these have occurred in the neonatal period (Dohan, 1934). The onset of gangrene after this period may be in association with severe infections (Watkins, 1938) or congenital heart disease (Gross, 1945). Current interest in cyanotic congenital heart disease warrants recording a case with th...

Altogether 54 children exposed prenatally to maternal cytomegalovirus (CMV) infection were followed up in a prospective study. Nine had congenital infection with CMV and 37 escaped congenital infection; in 8 congenital CMV could not be confirmed. The birthweight of children with congenital CMV was significantly lower than that of both controls and those who escaped congenital infection. Intraut...

Williams-Campbell syndrome is a rare disease, characterized by a congenital deficiency of cartilage in the fourth to sixth order bronchi, leading to chronic respiratory failure with recurrent pulmonary infections. An effective and practical treatment has not yet been established. A 31-year-old man who was diagnosed as Williams-Campbell syndrome by inspiratory and expiratory computed tomography ...

Congenital complement deficiency has been described in disseminated Neisseria infections. Its occurrences in humans with other kinds of infections have not been described. In the past, CH50 determinations have been used to detect these deficiencies, but this procedure is time consuming and cumbersome. A method of determining the presence of late component deficiencies or defects is described wh...

CMV is a ubiquitous human herpesvirus that causes a lifelong, persistent infection in its host. Whereas primary CMV infections in otherwise healthy individuals are typically asymptomatic and go unnoticed, complications can develop in immunosuppressed individuals following acute CMV infection or CMV reactivation, presenting as retinitis, hepatitis, pneumonitis, gastroenteritis, or other end-orga...

INTRODUCTION Aortopulmonary collateral arteries are an uncommon variant of alternative blood supply in cases of complex congenital heart disease. Although surgery may still be the classic approach for this condition, mini-invasive endovascular occlusion has been recently attempted as an alternative less traumatic procedure. Children born to women with epilepsy are at increased risk of congenita...