| Immunodeficiency 26 | |
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| Immunodeficiency 26 is inherited in an autosomal recessive pattern. | |
| Specialty | Medical genetics |
Immunodeficiency 26 is a rare genetic syndrome. It is characterised by absent circulating B and T cells and normal natural killer cells.
The features of this condition include recurrent candidiasis and lower respiratory tract infections. [1]
This condition is due to mutations in the DNA-PKcs gene and is inheritable in an autosomal recessive fashion. The gene is located on the long arm of chromosome 8 (8q11.21) on the minus strand. It encodes a protein of 4128 amino acids with a predicted molecular weight of 469 kiloDaltons. The encoded protein is a protein kinase that is activated by DNA. This protein acts as a sensor for damaged DNA.[ citation needed ]
Diagnosis is made by examination of the circulating lymphocytes and gene sequencing.[ citation needed ]
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This condition is rare. Only two cases have been described up to 2017. [2]
This condition was described in 2009 by van der Burg et al. [3]
Severe combined immunodeficiency (SCID) is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least nine different known genes in which mutations lead to a form of SCID. It is also known as the bubble boy disease and bubble baby disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is the result of an immune system so highly compromised that it is considered almost absent.
Non-homologous end joining (NHEJ) is a pathway that repairs double-strand breaks in DNA. NHEJ is referred to as "non-homologous" because the break ends are directly ligated without the need for a homologous template, in contrast to homology directed repair, which requires a homologous sequence to guide repair. The term "non-homologous end joining" was coined in 1996 by Moore and Haber.
Hypergammaglobulinemia is a medical condition with elevated levels of gamma globulin.
The common gamma chain (γc), also known as interleukin-2 receptor subunit gamma or IL-2RG, is a cytokine receptor sub-unit that is common to the receptor complexes for at least six different interleukin receptors: IL-2, IL-4, IL-7, IL-9, IL-15 and interleukin-21 receptor. The γc glycoprotein is a member of the type I cytokine receptor family expressed on most lymphocyte populations, and its gene is found on the X-chromosome of mammals.
X-linked severe combined immunodeficiency (X-SCID) is an immunodeficiency disorder in which the body produces very few T cells and NK cells.
Laminopathies are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. They are included in the more generic term nuclear envelopathies that was coined in 2000 for diseases associated with defects of the nuclear envelope. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals.
Nibrin, also known as NBN or NBS1, is a protein which in humans is encoded by the NBN gene.
Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the CHD7 gene.
Nuclear factor NF-kappa-B p100 subunit is a protein that in humans is encoded by the NFKB2 gene.
DNA-dependent protein kinase, catalytic subunit, also known as DNA-PKcs, is an enzyme that in humans is encoded by the gene designated as PRKDC or XRCC7. DNA-PKcs belongs to the phosphatidylinositol 3-kinase-related kinase protein family. The DNA-Pkcs protein is a serine/threonine protein kinase comprising a single polypeptide chain of 4,128 amino acids.
Artemis is a protein that in humans is encoded by the DCLRE1C gene.
GM2 ganglioside activator also known as GM2A is a protein which in humans is encoded by the GM2A gene.
The severe combined immunodeficiency (SCID) is a severe immunodeficiency genetic disorder that is characterized by the complete inability of the adaptive immune system to mount, coordinate, and sustain an appropriate immune response, usually due to absent or atypical T and B lymphocytes. In humans, SCID is colloquially known as "bubble boy" disease, as victims may require complete clinical isolation to prevent lethal infection from environmental microbes.
Protein kinase C eta type is an enzyme that in humans is encoded by the PRKCH gene.
Serine/threonine-protein kinase D3 (PKD3) or PKC-nu is an enzyme that in humans is encoded by the PRKD3 gene.
DNA-binding protein RFX5 is a protein that in humans is encoded by the RFX5 gene.
B-cell lymphoma/leukemia 11B is a protein that in humans is encoded by the BCL11B gene.
A NOG (NOD/Shi-scid/IL-2Rγnull) mouse is a new generation of severely immunodeficient mouse, developed by Central Institute for Experimental Animals (CIEA) in 2000. The NOG mouse accepts heterologous cells much more easily compared with any other type of immunodeficient rodent models, such as nude mouse and NOD/scid mouse. Thus, the mouse can be the best model as a highly efficient recipient of human cells to engraft, proliferate and differentiate. This unique feature offers a great opportunity for enhancing therapy researches of cancer, leukemia, visceral diseases, AIDS, and other human diseases. It also provides applications for cancer, infection, regeneration, and hematology researches.
RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity, ImmunoDeficiency Dysmorphic features and LEarning difficulties.