Early diagnosis of severe combined immunodeficiency syndrome.

Hague, R. A.; Rassam, S. M. B.; Morgan, Gareth J.; Cant, AJ

doi:10.1136/adc.70.4.260

Cited by 46 publications

(26 citation statements)

References 13 publications

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“…A number of different molecular defects give rise to impaired or absent T-cells and associated direct or indirect B-cell dysfunction. A white cell differential will normally show a low lymphocyte count (typically ,2.8610 9 ?L -1 ) [1], although this was not a feature of the present case. Diagnosis is made by evaluating lymphocyte subsets and can be confirmed with specific genetic probes [5].…”

Section: Discussioncontrasting

confidence: 49%

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An infant with pneumonia, failure to thrive and persistent radiographical changes

Thompson

Saglani²,

Bush³

2007

European Respiratory Journal

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A 9-month-old male presented to his local hospital with a 2-week history of diarrhoea and vomiting and a 48-h history of tachypnoea and grunting. He was afebrile on admission and oxygen saturation was 96% in room air, but he had mild respiratory distress and tachypnoea. Inflammatory markers were not raised but a chest radiograph showed left-sided collapse and consolidation. Treatment was commenced with i.v. antibiotics. The patient's respiratory pattern worsened 24 h after admission and his oxygen saturation dropped to 90%, requiring 2.5 L?min -1 supplemental oxygen. His diarrhoea settled after 48 h but he continued to have intermittent vomiting.The patient was an only child, born at term to unrelated parents and had no significant illnesses until this episode. He had a complete immunisation history and was achieving his developmental milestones normally. Weight gain was along the 50th centile for the first 6 months but had dropped down towards the second centile since weaning had occurred. There was no other family history of note.After 2.5 weeks, he still had a significant supplemental oxygen requirement and persisting left-sided chest radiograph abnormalities, despite a change to broader spectrum antibiotics, and so was transferred to the Royal Brompton Hospital (London, UK) for a respiratory opinion. On arrival, he had no significant fever and over the next 4 days he became normally saturated in room air. Antibiotics were stopped as his clinical condition improved.Initial investigations on presentation were normal (table 1), including white cell count differential and blood film. Early morning gastric washings were negative, as were Mantoux and sweat tests. Blood, urine and stool cultures, nasopharyngeal aspirate (NPA) for viral immunofluorescence and mycoplasma serology were all negative. Radioallergosorbent test for common allergens was negative as was a coeliac screen.The patient remained mildly tachypnoeic, despite the absence of an oxygen requirement. A chest radiograph was taken at this time ( fig. 1). Following this a high-resolution computed tomography (HRCT) scan was performed ( fig. 2).

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Section: Discussioncontrasting

confidence: 49%

“…The case illustrates the following lessons: 1) PCP may mimic lobar pneumonia, at least on chest radiographs; 2) PCP may appear to improve even without specific treatment; 3) at presentation of SCID, there may be a normal lymphocyte count, and not lymphopenia, as described elsewhere [1].…”

Section: Discussionmentioning

confidence: 99%

An infant with pneumonia, failure to thrive and persistent radiographical changes

Thompson

Saglani²,

Bush³

2007

European Respiratory Journal

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“…2 A and B). Such a neonatal failure to gain weight is commonly observed in human SCID infants (27,28). Skin-derived fibroblast cells from the RAG2 Δ140,S141H/Δ140-527 pigs proliferated at a rate comparable with those from the two groups of pigs, indicating that cellular proliferation was probably not the cause of the failure to gain weight (Fig.…”

Section: Resultsmentioning

confidence: 84%

Engraftment of human iPS cells and allogeneic porcine cells into pigs with inactivated RAG2 and accompanying severe combined immunodeficiency

Lee¹,

Kwon

Ezashi

et al. 2014

Proc. Natl. Acad. Sci. U.S.A.

101

118

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Pigs with severe combined immunodeficiency (SCID) may provide useful models for regenerative medicine, xenotransplantation, and tumor development and will aid in developing therapies for human SCID patients. Using a reporter-guided transcription activator-like effector nuclease (TALEN) system, we generated targeted modifications of recombination activating gene (RAG) 2 in somatic cells at high efficiency, including some that affected both alleles. Somaticcell nuclear transfer performed with the mutated cells produced pigs with RAG2 mutations without integrated exogenous DNA. Biallelically modified pigs either lacked a thymus or had one that was underdeveloped. Their splenic white pulp lacked B and T cells. Under a conventional housing environment, the biallelic RAG2 mutants manifested a "failure to thrive" phenotype, with signs of inflammation and apoptosis in the spleen compared with age-matched wildtype animals by the time they were 4 wk of age. Pigs raised in a clean environment were healthier and, following injection of human induced pluripotent stem cells (iPSCs), quickly developed mature teratomas representing all three germ layers. The pigs also tolerated grafts of allogeneic porcine trophoblast stem cells. These SCID pigs should have a variety of uses in transplantation biology.

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“…Omenn syndrome diers in that aected infants present with features of SCID, but with a normal or raised lymphocyte count [2]. T-lymphocyte numbers can be elevated or normal, but their function and subsets are abnormal.…”

Section: Discussionmentioning

confidence: 99%