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Query author contributions in Reactome

Reactome depends on collaboration between our curation team and outside experts to assemble and peer-review its pathway modules. The integration of ORCID within Reactome enables us to meet a key challenge with authoring, curating and reviewing biological information by incentivizing and crediting the external experts that contribute their expertise and time to the Reactome curation process. More information is available at ORCID and Reactome.

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Details on Person Severe combined immunodeficiency (SCID) represents a group o...

Class:IdSummation:5602729
_displayNameSevere combined immunodeficiency (SCID) represents a group o...
_timestamp2014-06-25 04:13:14
created[InstanceEdit:5602721] Shamovsky, Veronica, 2014-06-24
literatureReference[LiteratureReference:5602577] Adenosine Deaminase Deficiency
[LiteratureReference:5602576] Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway
[LiteratureReference:5602760] Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome
[LiteratureReference:5602693] The long quest for neonatal screening for severe combined immunodeficiency
[LiteratureReference:5602715] Establishing diagnostic criteria for severe combined immunodeficiency disease (SCID), leaky SCID, and Omenn syndrome: the Primary Immune Deficiency Treatment Consortium experience
[LiteratureReference:5602678] Severe combined immunodeficiency. A model disease for molecular immunology and therapy
[LiteratureReference:5602756] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID
[LiteratureReference:5602788] Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
modified[InstanceEdit:5602819] Shamovsky, Veronica, 2014-06-25
textSevere combined immunodeficiency (SCID) represents a group of rare, potentially fatal, inherited disorders associated with lack of mature B- and T-lymphocytes (Buckley RH et al. 1997; Fischer A et al. 2005; Shearer WT et al. 2014). Symptoms of SCID usually appear within the first few months after birth (Buckley RH 2012). SCID patients are susceptible to recurrent serious infections such as pneumonia, meningitis and chicken pox. The various forms of SCID can be categorized according to their lymphocytes phenotype (Bousfiha AA et al. 2013, Al-Herz W et al. 2014). While T-cell lymphopenia is common for most forms of SCID, levels of B- and natural killer cells (NK) may vary. SCID are grouped based on presence (T-B+ SCID) or absence (T-B- SCID) of B lymphocytes and can be further sub-classified by the presence or absence of NK. There are several different mechanisms that have been associated with SCID:
  • Defective signaling through the common gamma-chain cytokine receptors due to deficiency of one of the signaling components (e.g., IL2RG, JAK3, STAT5)(Schumacher RF and Notarangelo LD 2002)
  • Accumulation of purine metabolites due to adenosine deaminase (ADA) deficiency, which results in premature cell death of lymphocyte precursors (Hershfield M 2006)
  • V(D)J (variable, domain, joining) recombination defects during B and T lymphocytes development due to deficiency of the recombination activating enzymes RAG1 and RAG2 or due to defective DNA damage repair (Tabori U et al. 2004; Offer SM et al. 2010)
  • Defective pre-TCR and TCR signalling as a results of defects in signaling components such as CD45 phosphatase, etc.
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The Reactome module, which describes selective SCIDs and associated with them defective protein functions, will be extended further to add other affected cell processes.

(summation)[Pathway:5602513] Severe combined immunodeficiency [Homo sapiens]
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