{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3160&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3120&ordering=identifier","results":[{"identifier":"Immunodeficiency 87 and autoimmunity.","acronym":"IMD87.","accession":"DI-06246","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder with onset in infancy or early childhood. It is characterized by increased susceptibility to infections, often Epstein-Barr virus, as well as lymphadenopathy or autoimmune manifestations, predominantly hemolytic anemia. The disorder results primarily from defects in T-cell function. ","keywords":null},{"identifier":"Immunodeficiency 88.","acronym":"IMD88.","accession":"DI-06274","synonyms":"Immunodeficiency 88, mycobacteriosis, autosomal recessive.; ","cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by the development of disseminated mycobacterial disease following vaccination with BCG. Clinical features included fever, lymphadenopathy, and cutaneous eruption. ","keywords":null},{"identifier":"Immunodeficiency 89 and autoimmunity.","acronym":"IMD89.","accession":"DI-06275","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. ","keywords":null},{"identifier":"Immunodeficiency 8 with lymphoproliferation.","acronym":"IMD8.","accession":"DI-03875","synonyms":null,"cross_references":"MeSH; D007153.","definition":"A disease of the immune system leading to recurrent infections, and characterized by CD4+ T-cells lymphopenia. Patients can develop B-cell lymphoproliferation associated with Epstein-Barr virus infection. ","keywords":null},{"identifier":"Immunodeficiency 9.","acronym":"IMD9.","accession":"DI-01021","synonyms":"Immune dysfunction with T-cell inactivation due to calcium entry defect 1.; Severe combined immunodeficiency due to CRAC channel dysfunction.; ","cross_references":"MeSH; D007153.","definition":"An immune disorder characterized by recurrent infections, impaired activation and proliferative response of T-cells, decreased T-cell production of cytokines, and normal lymphocytes counts and serum immunoglobulin levels. In surviving patients ectodermal dysplasia with anhidrosis and non-progressive myopathy may be observed. ","keywords":null},{"identifier":"Immunodeficiency 91 and hyperinflammation.","acronym":"IMD91.","accession":"DI-06288","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by immunodeficiency, recurrent infections, and hyperinflammation with systemic involvement. Most patients eventually develop hepatic or renal failure, may have compromised neurologic function, lymphadenopathy or hepatosplenomegaly. Early death often occurs due to multiorgan failure. ","keywords":null},{"identifier":"Immunodeficiency 92.","acronym":"IMD92.","accession":"DI-06291","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by recurrent bacterial, viral, fungal, or parasitic infections appearing in infancy or early childhood. Patient lymphocytes show defects in both T- and B-cell proliferation, cytokine secretion, and overall function, and there is also evidence of dysfunction of NK, certain antigen-presenting cells, and myeloid subsets. ","keywords":null},{"identifier":"Immunodeficiency 93 and hypertrophic cardiomyopathy.","acronym":"IMD93.","accession":"DI-06317","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. ","keywords":"KW-0122:Cardiomyopathy.; "},{"identifier":"Immunodeficiency 94 with autoinflammation and dysmorphic facies.","acronym":"IMD94.","accession":"DI-06346","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal dominant disorder characterized by onset in early infancy, lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. ","keywords":null},{"identifier":"Immunodeficiency 95.","acronym":"IMD95.","accession":"DI-06358","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by the onset of recurrent and severe viral respiratory infections in infancy or early childhood, and impaired interferon production during viral infection. ","keywords":null},{"identifier":"Immunodeficiency 96.","acronym":"IMD96.","accession":"DI-06359","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Other infections, including gastrointestinal and urinary tract infections, may also occur. Laboratory studies show hypogammaglobulinemia, lymphopenia with increased gamma/delta T cells, and erythrocyte macrocytosis. ","keywords":null},{"identifier":"Immunodeficiency 97 with autoinflammation.","acronym":"IMD97.","accession":"DI-06382","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive disorder with variable features. Affected individuals have childhood-onset antibody defects, cytopenias, and T lymphocytic pneumonitis and colitis. Some patients may have features of hemophagocytic lymphohistiocytosis. ","keywords":null},{"identifier":"Immunodeficiency 98 with autoinflammation, X-linked.","acronym":"IMD98.","accession":"DI-06381","synonyms":"Inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8.; INFLTR8.; ","cross_references":"MeSH; D007153.","definition":"An X-linked disorder characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Mostly males are affected; carrier females may have mild symptoms. Features include mouth ulcers, fever, poor early growth, hepatosplenomegaly, lymphadenopathy, polyarthritis, and non- infectious enteritis. ","keywords":null},{"identifier":"Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias.","acronym":"IMD99.","accession":"DI-06402","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An autosomal recessive immunologic disorder characterized by recurrent sinopulmonary infections appearing in early childhood, B- and T-cell lymphopenia, and progressive severe hypogammaglobulinemia with decreased memory B cells. Patients may develop autoimmune cytopenias, such as thrombocytopenia, or autoimmune features, such as vitiligo. ","keywords":null},{"identifier":"Immunodeficiency-centromeric instability-facial anomalies syndrome 1.","acronym":"ICF1.","accession":"DI-01813","synonyms":"Centromeric instability immunodeficiency syndrome.; CIID.; ICF syndrome.; Variable immune deficiency with centromeric instability of chromosomes 1 9 and 16.; Variable immunodeficiency syndrome.; ","cross_references":"MeSH; D043171.","definition":"A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ","keywords":null},{"identifier":"Immunodeficiency-centromeric instability-facial anomalies syndrome 2.","acronym":"ICF2.","accession":"DI-03138","synonyms":null,"cross_references":"MeSH; D043171.","definition":"A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ","keywords":null},{"identifier":"Immunodeficiency-centromeric instability-facial anomalies syndrome 3.","acronym":"ICF3.","accession":"DI-04704","synonyms":null,"cross_references":"MeSH; D043171.","definition":"A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ","keywords":null},{"identifier":"Immunodeficiency-centromeric instability-facial anomalies syndrome 4.","acronym":"ICF4.","accession":"DI-04705","synonyms":null,"cross_references":"MeSH; D043171.","definition":"A rare disorder characterized by a variable immunodeficiency resulting in recurrent infections, facial anomalies, and branching of chromosomes 1, 9, and 16. Other variable symptoms include growth retardation, failure to thrive, and psychomotor retardation. Laboratory studies show limited hypomethylation of DNA in a small fraction of the genome in some, but not all, patients. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 1.","acronym":"CVID1.","accession":"DI-01805","synonyms":"Antibody deficiency due to ICOS defect.; ICOS deficiency.; ","cross_references":"MeSH; D017074.","definition":"A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 10.","acronym":"CVID10.","accession":"DI-03979","synonyms":"Common variable immunodeficiency with central adrenal insufficiency.; DAVID.; Deficit in anterior pituitary function and variable immunodeficiency.; ","cross_references":"MeSH; D017074.","definition":"A primary immunodeficiency characterized by childhood-onset of recurrent infections, hypogammaglobulinemia, and decreased numbers of memory and marginal zone B-cells. Some patients may develop autoimmune features and have circulating autoantibodies. An unusual feature is central adrenal insufficiency. ","keywords":null}]}