Severe Combined Immunodeficiences: New and Old Scenarios

@article{Aloj2012SevereCI,
  title={Severe Combined Immunodeficiences: New and Old Scenarios},
  author={Giuseppina Aloj and Giuliana Giardino and L Valentino and Filomena Maio and Vera Gallo and Tiziana Esposito and Roberta Naddei and Emilia Cirillo and Claudio Pignata},
  journal={International Reviews of Immunology},
  year={2012},
  volume={31},
  pages={43 - 65}
}
Severe combined immunodeficiencies (SCIDs) represent a group of distinct congenital disorders affecting either cell-mediated or humoral immunity, which lead invariably to severe and life-threatening infections. The different forms of SCID are currently classified according to the presence or absence of T, B, and NK cells. This greatly helps define the site of the blockage during the differentiation process. Even though SCID patients share common clinical features, such as opportunistic… 
Severe combined immunodeficiency—an update
TLDR
The biological and clinical features of SCIDs are reviewed paying particular attention to the most recently identified forms and to their unusual or extra‐immunological clinical features.
Hyper IgM syndrome presenting as chronic suppurative lung disease
TLDR
The presence of low serum IgG and IgA levels, elevated IgM levels, and a marked reduction of in vivo switched memory B cells led to a clinical and functional diagnosis of HIGM although the genetic cause was not identified.
Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.
Next-Generation Sequencing Based Clinical Molecular Diagnosis of Primary Immunodeficiency Diseases
TLDR
This chapter describes the most recent applications of NGS technology to PIDs with a focus on clinical molecular diagnosis and discovery of novel genes in Mendelian human disorders.
Combined immunodeficiencies: twenty years experience from a single center in Turkey
TLDR
Shortening time of diagnosis would increase chance of HSCT as life-saving treatment in the CID patients, and reduce the chance of misdiagnosis of unknown genetic diagnosis.
Host genetic factors in susceptibility to mycobacterial disease.
TLDR
An overview of a group of rare inherited disorders that manifest as heightened susceptibility to infection, autoimmunity and/or malignancy alongside other genetic causes of susceptibility to mycobacterial disease is provided.
Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels
TLDR
The data suggest that in children with severe and recurrent infections, even in the absence of a mycobacterial infection, functional and/or genetic alterations of the molecular mechanisms governing Th1/Th2 homeostasis might be responsible for an atypical immunodeficiency and should be investigated in these patients.
Reticular Dysgenesis: Fiction or Reality in Morocco
TLDR
A case of reticular dysgenesis, a very rare condition in Morocco, and a review of the literature are reported.
Betamethasone therapy in ataxia telangiectasia: unraveling the rationale of this serendipitous observation on the basis of the pathogenesis
TLDR
A better understanding of the mechanisms of action of GCs in the brain is needed, because in A‐T during the initial phase of cell loss the neurological impairment may be rescued by interfering in the biochemical pathways.
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
TLDR
NGS technologies represent a cost-effective and rapid first-line genetic approach for the evaluation of complex PIDs and WES, despite a moderate higher cost compared to targeted, is emerging as a valuable tool to reach a PID diagnosis with a considerable potential to draw genotype–phenotype correlation.
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 191 REFERENCES
Severe combined immunodeficiencies
TLDR
Significant improvement in the therapy of SCIDs has been made in the last 10 years leading to cure of at least 3/4 patients with SCID by either HLA identical or non identical bone marrow transplantation.
Clinical spectrum of X-linked hyper-IgM syndrome.
Clinical heterogeneity can hamper the diagnosis of patients with ZAP70 deficiency
TLDR
awareness of the clinical heterogeneity of ZAP70 deficiency is of utmost importance for making a fast and accurate diagnosis, which will contribute to the improvement of the adequate treatment of this severe immunodeficiency.
Immunodeficiencies with autoimmune consequences.
Tolerance and autoimmunity: lessons at the bedside of primary immunodeficiencies.
Common variable immunodeficiency: an update on etiology and management.
Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency
TLDR
Molecular analysis at the JAK3 locus results in improved genetic counseling, allows early prenatal diagnosis, and prompts appropriate treatment in affected families, including clinical data on all of the 23 affected patients reported so far.
Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants.
Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2
TLDR
Reticular dysgenesis is the first example of a human immunodeficiency syndrome that is causally linked to energy metabolism and that can therefore be classified as a mitochondriopathy, and in vivo evidence for AK2 selectivity in leukocyte differentiation is provided.
...
1
2
3
4
5
...