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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3080",
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"results": [
{
"identifier": "Immunodeficiency 15A.",
"acronym": "IMD15A.",
"accession": "DI-05387",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal dominant primary immunodeficiency disorder characterized by lymphopenia, inflammation and immune activation of both CD4+ and CD8+ T cells. Patients suffer from recurrent respiratory tract infections, oral candidiasis, and otitis media. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 15B.",
"acronym": "IMD15B.",
"accession": "DI-04000",
"synonyms": null,
"cross_references": "MeSH; D016511.",
"definition": "An autosomal recessive primary immunodeficiency disorder characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections and failure to thrive. Laboratory studies show hypo- or agammaglobulinemia with relatively normal numbers of B and T-cells, and impaired differentiation and activation of immune cells. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 16.",
"acronym": "IMD16.",
"accession": "DI-04001",
"synonyms": "OX40 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 17.",
"acronym": "IMD17.",
"accession": "DI-04033",
"synonyms": "CD3-gamma deficiency.; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 18.",
"acronym": "IMD18.",
"accession": "DI-04034",
"synonyms": "CD3-epsilon deficiency.; Immunodeficiency 18, SCID variant.; Immunodeficiency 18, severe combined immunodeficiency variant.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 19.",
"acronym": "IMD19.",
"accession": "DI-04027",
"synonyms": "CD3-delta deficiency.; T cell-negative, B cell-positive, NK cell-positive SCID.; T cell-negative, B cell-positive, NK cell-positive severe combined immunodeficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive form of severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T-cell negative, B-cell positive, NK-cell positive phenotype. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 20.",
"acronym": "IMD20.",
"accession": "DI-04050",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Affected individuals typically present with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV). ",
"keywords": null
},
{
"identifier": "Immunodeficiency 21.",
"acronym": "IMD21.",
"accession": "DI-03212",
"synonyms": "Combined immunodeficiency with susceptibility to mycobacterial viral and fungal infections.; DCML.; Dendritic cell monocyte lymphocyte B and natural killer lymphocyte deficiency.; Monocytopenia and mycobacterial infection syndrome.; Monocytopenia with susceptibility to mycobacterial fungal and papillomavirus infections and myelodysplasia.; MONOMAC.; ",
"cross_references": "MeSH; D008231.",
"definition": "An immunodeficiency disease characterized by profoundly decreased or absent monocytes, B-lymphocytes, natural killer lymphocytes, and circulating and tissue dendritic cells, with little or no effect on T- cell numbers. Clinical features of DCML include susceptibility to disseminated non-tuberculous mycobacterial infections, papillomavirus infections, opportunistic fungal infections, and pulmonary alveolar proteinosis. Bone marrow hypocellularity and dysplasia of myeloid, erythroid, and megakaryocytic lineages are present in most patients, as are karyotypic abnormalities, including monosomy 7 and trisomy 8. This syndrome links susceptibility to mycobacterial, viral, and fungal infections with malignancy and can be transmitted in an autosomal dominant pattern. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 22.",
"acronym": "IMD22.",
"accession": "DI-04079",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by T-cell dysfunction. Affected individuals present with lymphopenia, recurrent infections, severe diarrhea, and failure to thrive. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 23.",
"acronym": "IMD23.",
"accession": "DI-04117",
"synonyms": "Immunodeficiency-vasculitis-myoclonus syndrome.; Immunodeficiency with hyper IgE and cognitive impairment.; IVMS.; ",
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency syndrome characterized by recurrent respiratory and skin infections beginning in early childhood, severe atopy, increased serum IgE, and developmental delay or cognitive impairment of varying severity. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 24.",
"acronym": "IMD24.",
"accession": "DI-04159",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 25.",
"acronym": "IMD25.",
"accession": "DI-02209",
"synonyms": "Immunodeficiency due to defect in CD3-zeta.; ",
"cross_references": "MeSH; D007153.",
"definition": "An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 26 with or without neurologic abnormalities.",
"acronym": "IMD26.",
"accession": "DI-04200",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A form of severe combined immunodeficiency characterized by reduced or absent T and B cells, recurrent candidiasis, and lower respiratory tract infections. Some patients show dysmorphic features, severe growth failure, microcephaly, seizures, and impaired neurological functions. ",
"keywords": "KW-0705:SCID.; "
},
{
"identifier": "Immunodeficiency 27A.",
"acronym": "IMD27A.",
"accession": "DI-01964",
"synonyms": "Autosomal recessive IFNGR1 deficiency.; Autosomal recessive immunodeficiency 27A, mycobacteriosis.; Familial disseminated atypical mycobacterial infection.; ",
"cross_references": "MeSH; D009164.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 27B.",
"acronym": "IMD27B.",
"accession": "DI-04225",
"synonyms": "IFNGR1 deficiency, autosomal dominant.; Immunodeficiency 27B, mycobacteriosis, autosomal dominant.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD27B commonly presents with recurrent, moderately severe infections with environmental mycobacteria or BCG. Salmonellosis is present in about 5% of patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 28.",
"acronym": "IMD28.",
"accession": "DI-04221",
"synonyms": "IFNGR2 deficiency.; Immunodeficiency 28, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 29.",
"acronym": "IMD29.",
"accession": "DI-04222",
"synonyms": "IL12B deficiency.; Immunodeficiency 29, mycobacteriosis.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 30.",
"acronym": "IMD30.",
"accession": "DI-04223",
"synonyms": "IL12RB1 deficiency.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 31A.",
"acronym": "IMD31A.",
"accession": "DI-04224",
"synonyms": "Immunodeficiency 31A, mycobacteriosis, autosomal dominant.; STAT1 deficiency, autosomal dominant.; ",
"cross_references": "MeSH; D009165.",
"definition": "A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 31B.",
"acronym": "IMD31B.",
"accession": "DI-03106",
"synonyms": "Autosomal recessive STAT1 deficiency.; Autosomal recessive susceptibility to mycobacterial and viral infections.; Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive.; Mycobacterial and viral infections due to complete STAT1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness. ",
"keywords": null
}
]
}