Severe combined immunodeficiency-an update [PDF]
Severe combined immunodeficiencies (SCIDs) are a group of inherited disorders responsible for severe dysfunctions of the immune system. These diseases are life-threatening when the diagnosis is made too late; they are the most severe forms of primary ...
CIRILLO, EMILIA+8 more
core +5 more sources
Severe Combined Immunodeficiency
5 month old female baby presented with cough followed by respiratory distress and not gaining weight. There was no history of fever, diarrhea or recurrent infections. Her elder brother died due to respiratory illness at the age of 8 months. There was accelerated reaction at BCG site.
Sayantani Nandi+3 more
openaire +5 more sources
Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening [PDF]
Newborn screening; Severe combined immunodeficiencyCribatge nounat; Immunodeficiència combinada severaCribado neonato; Inmunodeficiencia combinada gravePurine nucleoside phosphorylase (PNP) deficiency is a rare inherited disorder, resulting in severe ...
Alonso Garcia, Laura+9 more
core +4 more sources
Severe vaccine-acquired rotavirus infection in an infant with primary intestinal lymphangiectasia [PDF]
Clinical letterTo date, severe cases of vaccine-related rotavirus infection have only been reported in infants with severe combined immunodeficiency after immunization.
Cabrerizo, Maria+8 more
core +2 more sources
Diagnosis of severe combined immunodeficiency [PDF]
Early diagnosis of severe combined immunodeficiency (SCID) is important to enable prompt referral to a supraregional centre for bone marrow transplantation before the occurrence of end organ damage secondary to infective complications. This review outlines clinical, microbiological, and immunopathological clues that aid the diagnosis of SCID and ...
Andrew J. Cant, Andrew R. Gennery
openaire +3 more sources
Genetics of severe combined immunodeficiency
Severe Combined Immunodeficiency (SCID) is an inherited group of rare, life-threatening disorders due to the defect in T cell development and function. Clinical manifestations are characterised by recurrent and severe bacterial, viral, and fungal opportunistic infections that start from early infancy period.
Rajni Kumrah+8 more
openaire +3 more sources
Immunodeficiency in DiGeorge Syndrome and Options for Treating Cases with Complete Athymia. [PDF]
The commonest association of thymic stromal deficiency resulting in T-cell immunodeficiency is the DiGeorge syndrome (DGS). This results from abnormal development of the third and fourth pharyngeal arches and is most commonly associated with a ...
Davies, EG
core +2 more sources
Severe combined immunodeficiency [PDF]
Rezumat. Imunodeficiențele combinate severe (SCID) reprezintă o serie de tulburări înnăscute ale sistemului imun, cel mai frecvent cu transmitere X-linkată sau autosomal recesivă care se caracterizează prin infecții precoce (cel mai frecvent până la 6
Cochino, Alexis
core
Delivery of a baby with severe combined immunodeficiency at 31 weeks gestation following an extreme preterm prelabour spontaneous rupture of the membranes: a case report [PDF]
Introduction If left untreated, severe combined immunodeficiency can lead to an acute susceptibility to infection. The intrauterine environment is sterile until the amniotic membranes rupture.
B Mercer+8 more
core +3 more sources
Global properties of an age-structured virus model with saturated antibody immune response, multi-target cells and general incidence rate [PDF]
Some viruses, such as human immunodeficiency virus, can infect several types of cell populations. The age of infection can also affect the dynamics of infected cells and production of viral particles. In this work, we study a virus model with infection-age and different types of target cells which takes into account the saturation effect in antibody ...
arxiv +1 more source