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"count": 6723,
"next": "https://cinder.proteo.info/api/human_diseases/?format=api&limit=20&offset=3060",
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"results": [
{
"identifier": "Immunodeficiency 106, susceptibility to viral infections.",
"acronym": "IMD106.",
"accession": "DI-06465",
"synonyms": "IFNAR1 deficiency.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. IMD106 affected individuals may demonstrate adverse reactions to vaccination with live attenuated viral vaccines, most notably measles, mumps and rubella (MMR) and yellow fever vaccines. A subset of IMD106 patients develop severe reactions, including excessive hyperinflammatory response, encephalopathy, acute respiratory distress syndrome, and multiorgan failure. IMD106 may also predispose to severe respiratory infection with SARS-CoV-2. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection.",
"acronym": "IMD107.",
"accession": "DI-06476",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant immunologic disorder characterized by increased susceptibility to invasive and severe Staphylococcus aureus infection, causing life-threatening skin or pulmonary necrosis. Clinically, penetrance is incomplete and expressivity is variable. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 108 with autoinflammation.",
"acronym": "IMD108.",
"accession": "DI-06512",
"synonyms": "Pelger-Huet-like anomaly and episodic fever with abdominal pain.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive disorder characterized by autoinflammation and immune impairment of neutrophils, manifesting around adolescence. Affected individuals have recurrent episodes of abdominal pain associated with fever and elevated inflammatory markers. Additional features include recurrent infections, particularly of the skin and nails, poor wound healing, and mild bleeding tendencies. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 109 with lymphoproliferation.",
"acronym": "IMD109.",
"accession": "DI-06628",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immune disorder characterized by recurrent sinopulmonary infections, susceptibility to infection with Epstein-Barr virus (EBV), persistent EBV viremia, and EBV-induced lymphoproliferation or B-cell lymphoma. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 110 with lymphoproliferation.",
"acronym": "IMD110.",
"accession": "DI-03600",
"synonyms": "MST1 deficiency.; STK4 deficiency.; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations.; TIIAC.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T-cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect. Patients are at risk for developing lymphoproliferative disorders or lymphoma. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 112.",
"acronym": "IMD112.",
"accession": "DI-06724",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunologic disorder characterized by variable abnormalities affecting lymphoid immunity, including hypogammaglobulinemia, lymphopenia or paradoxical lymphocytosis, and recurrent bacterial, viral, and fungal infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 113 with autoimmunity and autoinflammation.",
"acronym": "IMD113.",
"accession": "DI-06786",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by recurrent and severe infections, early-onset autoimmunity, inflammation, and facial dysmorphism. Features of autoimmunity and autoinflammation include hemolytic anemia, thrombocytopenia, hepatosplenomegaly, leukocytosis, neutrophilia, and elevated acute phase reactants. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 114, folate-responsive.",
"acronym": "IMD114.",
"accession": "DI-06794",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by recurrent skin and respiratory infections, mucosal bleeding, oral ulcers, chronic diarrhea, and poor overall growth. Affected individuals have lymphopenia, low serum immunoglobulins, and impaired T cell proliferation. Some patients have global developmental delay. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 115 with autoinflammation.",
"acronym": "IMD115.",
"accession": "DI-06795",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early infancy and characterized by combined immunodeficiency, recurrent bacterial, viral, and fungal infections, as well as autoinflammatory features, including arthritis and dermatitis. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 116.",
"acronym": "IMD116.",
"accession": "DI-01560",
"synonyms": "CD8 deficiency, familial.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic defect characterized by absence of CD8+ cells, leading to recurrent bacterial infections. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 117.",
"acronym": "IMD117.",
"accession": "DI-06820",
"synonyms": "Immunodeficiency 117, mycobacteriosis, autosomal recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood, after exposure to weakly virulent mycobacteria. Affected individuals develop mycobacterial disease after BCG (bacille Calmette-Guerin) vaccination. Immunologic workup shows impaired development of myeloid and lymphoid cell subsets that secrete and respond to gamma-interferon. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 118.",
"acronym": "IMD118.",
"accession": "DI-06818",
"synonyms": "Immunodeficiency 118, mycobacteriosis, X-linked recessive.; ",
"cross_references": "MeSH; D007153.",
"definition": "An X-linked recessive disorder characterized by increased susceptibility to disseminated mycobacterial infections in infancy, notably after Bacillus Calmette-Guerin (BCG) vaccination. Initial clinical features include fever, lymphadenopathy, hepatosplenomegaly, abscesses, and osteomyelitis. Affected males usually recover with treatment, have no other infections, and show normal growth and development. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 119.",
"acronym": "IMD119.",
"accession": "DI-06903",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder characterized by childhood-onset of recurrent respiratory tract infections, susceptibility to chronic DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 11 A.",
"acronym": "IMD11A.",
"accession": "DI-03761",
"synonyms": "CARD11 immunodeficiency.; IMD11.; Immunodeficiency 11.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive primary immunodeficiency characterized by normal numbers of T and B-lymphocytes, but defective intracellular signaling. There is a block in B-cell differentiation with increased numbers of transitional B-cells and hypogammaglobulinemia, as well as decreased numbers of regulatory T-cells and defects in T-cell function. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 11B with atopic dermatitis.",
"acronym": "IMD11B.",
"accession": "DI-05074",
"synonyms": "Atopic dermatitis, elevated IgE, and eosinophilia.; ",
"cross_references": "MeSH; D007153.",
"definition": "An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities. Laboratory studies show defects in T-cell activation, increased IgE, and eosinophilia. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 12.",
"acronym": "IMD12.",
"accession": "DI-03911",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "A primary immunodeficiency characterized by onset in infancy of recurrent bacterial and candidal infections resulting in bronchiectasis and growth delay. Manifestations include mastoiditis, aphthous ulcers, cheilitis, gingivitis, esophagitis, gastritis, duodenitis, and meningitis. Levels of absolute lymphocytes and serum immunoglobulins are normal, but specific antibody titers are low despite immunization, and T-cells show impaired proliferative responses to mitogens. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 120.",
"acronym": "IMD120.",
"accession": "DI-06904",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive immunologic disorder manifesting in early childhood with recurrent upper and lower respiratory tract infections, lymphopenia, and hypogammaglobulinemia. Affected individuals may also develop persistent viral infections, particularly of the herpes family. Additional variable features include hearing loss, speech delay, short stature, and mildly impaired intellectual development. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 13.",
"acronym": "IMD13.",
"accession": "DI-03941",
"synonyms": "ICL.; Idiopathic CD4 lymphopenia.; ",
"cross_references": "MeSH; D007153.",
"definition": "A rare and heterogeneous syndrome defined by a reproducible reduction in the CD4 T-lymphocyte count (less than 300 cells per microliter or less than 20% of total T-cells) in the absence of HIV infection or other known causes of immunodeficiency. IMD13 predisposes to infections and malignancy. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 14A with lymphoproliferation, autosomal dominant.",
"acronym": "IMD14A.",
"accession": "DI-03995",
"synonyms": "Activated PI3K-delta immunodeficiency syndrome.; Activated PI3K-delta syndrome.; APDS.; p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency.; PASLI.; ",
"cross_references": "MeSH; D007153.",
"definition": "A disorder characterized by recurrent respiratory infections, progressive airway damage, lymphopenia, increased circulating transitional B cells, increased immunoglobulin M, reduced immunoglobulin G2 levels in serum, and impaired vaccine responses. ",
"keywords": null
},
{
"identifier": "Immunodeficiency 14B, autosomal recessive.",
"acronym": "IMD14B.",
"accession": "DI-06085",
"synonyms": null,
"cross_references": "MeSH; D007153.",
"definition": "An autosomal recessive, primary immunodeficiency characterized by recurrent sinopulmonary infections apparent in early childhood. Some patients may develop inflammatory bowel disease or osteomyelitis. Immunological features include hypogammaglobulinemia, decreased levels of B cells, and evidence of impaired immune-mediated cytotoxicity and defective T-cell function. ",
"keywords": null
}
]
}