{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3560&ordering=-identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=3520&ordering=-identifier","results":[{"identifier":"Immunoskeletal dysplasia with neurodevelopmental abnormalities.","acronym":"ISDNA.","accession":"DI-04990","synonyms":null,"cross_references":"MeSH; D065886.","definition":"An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. ","keywords":"KW-0242:Dwarfism.; KW-0991:Intellectual disability.; "},{"identifier":"Immunoglobulin kappa light chain deficiency.","acronym":"IGKCD.","accession":"DI-03204","synonyms":"Kappa chain deficiency.; ","cross_references":"MeSH; D007153.","definition":"A disease characterized by the complete absence of immunoglobulin kappa chains. ","keywords":null},{"identifier":"Immunoglobulin A deficiency 2.","acronym":"IGAD2.","accession":"DI-01814","synonyms":null,"cross_references":"MedGen; C1836032.","definition":"Selective deficiency of immunoglobulin A (IGAD) is the most common form of primary immunodeficiency, with an incidence of approximately 1 in 600 individuals in the western world. Individuals with symptomatic IGAD often have deficiency of IgG subclasses or decreased antibody response to carbohydrate antigens such as pneumococcal polysaccharide vaccine. Individuals with IGAD also suffer from recurrent sinopulmonary and gastrointestinal infections and have an increased incidence of autoimmune disorders and of lymphoid and non-lymphoid malignancies. In vitro studies have suggested that some individuals with IGAD have impaired isotype class switching to IgA and others may have a post-switch defect. IGAD and CVID have been known to coexist in families. Some individuals initially present with IGAD1 and then develop CVID. These observations suggest that some cases of IGAD and CVID may have a common etiology. ","keywords":null},{"identifier":"Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia.","acronym":"XMEN.","accession":"DI-03201","synonyms":null,"cross_references":"MeSH; D008231.","definition":"A disease characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation. ","keywords":null},{"identifier":"Immunodeficiency with hyper-IgM, type 1.","acronym":"HIGM1.","accession":"DI-02449","synonyms":"HIGM.; Hyper-IgM syndrome.; Hyper-IgM syndrome 1.; IHIS.; IMD3.; Immunodeficiency 3.; XHIM.; X-linked hyper IgM syndrome.; X-linked immunodeficiency with hyper-IgM 1.; ","cross_references":"MeSH; D053307.","definition":"Immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence. ","keywords":null},{"identifier":"Immunodeficiency with hyper-IgM 5.","acronym":"HIGM5.","accession":"DI-01812","synonyms":"Hyper-IgM immunodeficiency type 5.; Hyper-IgM syndrome 5.; ","cross_references":"MeSH; D053306.","definition":"A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ","keywords":null},{"identifier":"Immunodeficiency with hyper-IgM 3.","acronym":"HIGM3.","accession":"DI-01763","synonyms":"Hyper-IgM immunodeficiency type 3.; Hyper-IgM syndrome 3.; ","cross_references":"MeSH; D053306.","definition":"A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ","keywords":null},{"identifier":"Immunodeficiency with hyper-IgM 2.","acronym":"HIGM2.","accession":"DI-01241","synonyms":"Hyper-IgM immunodeficiency type 2.; Hyper-IgM syndrome 2.; ","cross_references":"MeSH; D053306.","definition":"A rare immunodeficiency syndrome characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE. It results in a profound susceptibility to bacterial infections. ","keywords":null},{"identifier":"Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome.","acronym":"IPEX.","accession":"DI-01811","synonyms":"X-linked autoimmunity-immunodeficiency syndrome.; ","cross_references":"MedGen; C1844663.","definition":"Characterized by neonatal onset insulin-dependent diabetes mellitus, infections, secretory diarrhea, thrombocytopenia, anemia and eczema. It is usually lethal in infancy. ","keywords":null},{"identifier":"Immunodeficiency due to defect in MAPBP-interacting protein.","acronym":"ID-MAPBPIP.","accession":"DI-01810","synonyms":null,"cross_references":"MedGen; C1835829.","definition":"This form of primary immunodeficiency syndrome includes congenital neutropenia, partial albinism, short stature and B-cell and cytotoxic T-cell deficiency. ","keywords":null},{"identifier":"Immunodeficiency, developmental delay, and hypohomocysteinemia.","acronym":"IMDDHH.","accession":"DI-05121","synonyms":null,"cross_references":"MeSH; D007153.","definition":"An early onset multisystem disorder characterized by immunodeficiency, recurrent infections, developmental delay, poor growth, intellectual disability, and hypohomocysteinemia. Some patients manifest congenital cardiac defects. IMDDHH inheritance pattern is autosomal dominant. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 8, with autoimmunity.","acronym":"CVID8.","accession":"DI-03490","synonyms":null,"cross_references":"MeSH; D017074.","definition":"An autosomal recessive immunologic disorder associated with defective B-cell differentiation and decreased or absent antibody production. Affected individuals have early-childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 7.","acronym":"CVID7.","accession":"DI-03489","synonyms":null,"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, 6.","acronym":"CVID6.","accession":"DI-02803","synonyms":"Antibody deficiency due to CD81 defect.; ","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, 5.","acronym":"CVID5.","accession":"DI-02802","synonyms":"Antibody deficiency due to CD20 defect.; ","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, 4.","acronym":"CVID4.","accession":"DI-02801","synonyms":"Antibody deficiency due to BAFFR defect.; ","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, 3.","acronym":"CVID3.","accession":"DI-02800","synonyms":"Antibody deficiency due to CD19 defect.; ","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, 2.","acronym":"CVID2.","accession":"DI-01371","synonyms":"Antibody deficiency due to TACI defect.; Hypogammaglobulinemia due to TACI 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, 15.","acronym":"CVID15.","accession":"DI-06822","synonyms":null,"cross_references":"MeSH; D017074.","definition":"An autosomal dominant immunologic disorder resulting in recurrent severe infections since early childhood or infancy, and characterized by hypogammaglobulinemia with antibody deficiencies of IgM, IgG, and IgA due to impaired plasma cell homeostasis, although other B cell subset numbers are normal. T and NK cells are also normal. CVID15 inheritance is autosomal dominant. ","keywords":null},{"identifier":"Immunodeficiency, common variable, 14.","acronym":"CVID14.","accession":"DI-05140","synonyms":null,"cross_references":"MeSH; D017074.","definition":"A primary immunodeficiency resulting in recurrent sinopulmonary infections since early childhood, and characterized by hypogammaglobulinemia with undetectable IgG and IgA, poor response to vaccination, and decreased levels of switched memory B cells. CVID14 inheritance is autosomal dominant. ","keywords":null}]}