Immune Deficiency Disease (HIV)
别称：
Immunodeficiency
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Primary Immunodeficiency Disease
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Immunologic Deficiency Syndromes
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Primary Immunodeficiency
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Immunodeficiencies with Severe Reduction in at Least Two Serum Immunoglobulin Isotypes with Normal or Low Numbers of B Cells
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Immunodeficiencies with Severe Reduction in Serum Igg or Iga with Normal or Elevated Igm and Normal Numbers of B-Cells
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Human Immunodeficiency Virus Disease Without Mention of Tuberculosis or Malaria, Clinical Stage Unspecified
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Immunodeficiencies with Isotype or Light Chain Deficiencies with Normal Number of B Cells
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Human Immunodeficiency Virus Disease Without Mention of Tuberculosis or Malaria
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Other Specified Primary Immunodeficiencies Due to Disorders of Innate Immunity
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Primary Immunodeficiencies Due to Disorders of Adaptive Immunity, Unspecified
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Primary Immunodeficiencies Due to Disorders of Innate Immunity, Unspecified
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Other Specified Immunodeficiencies with Predominantly Antibody Defects
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Immunodeficiencies with Predominantly Antibody Defects, Unspecified
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Immunodeficiency with an Early Component of Complement Deficiency
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Primary Immunodeficiencies Due to Disorders of Adaptive Immunity
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Immunodeficiency with a Late Component of Complement Deficiency
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Immunodeficiency Due to Human Immunodeficiency Virus Infection
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Primary Immunodeficiencies Due to Disorders of Innate Immunity
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Immunodeficiencies with Predominantly Antibody Defects
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Immunodeficiency with Natural-Killer Cell Deficiency
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Acquired Immune Deficiency Syndrome-Related Complex
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Hypogammaglobulinaemia Antibody Deficiency Syndrome
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Unspecified Human Immunodeficiency Virus Disease
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Agammaglobulinaemia Antibody Deficiency Syndrome
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Immunodeficiency Due to Defects of the Thymus
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Other Specified Primary Immunodeficiencies
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Human Immunodeficiency Virus Positive Nos
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Deficiency of Complement Terminal Pathway
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Immunodeficiency with Factor B Deficiency
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Deficiency of Complement Initial Pathway
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Immunodeficiency with Nk-Cell Deficiency
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Primary Immunodeficiencies, Unspecified
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Human Immunodeficiency Virus Infection
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Immunodeficiency with Factor D Anomaly
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Human Immunodeficiency Virus Disease
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Common Variable Agammaglobulinaemia
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Primary Immune Deficiency Disorder
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Nonfamilial Hypogammaglobulinaemia
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Common Variable Immune Deficiency
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Acquired Agammaglobulinaemia Nos
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Nonfamilial Agammaglobulinaemia
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Immune Deficiency Disorder
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Primary Immunodeficiencies
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Hypogammaglobulinaemia Nos
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Immunodeficiency Syndrome
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Aids-Related Complex Nos
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Agammaglobulinaemia Nos
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Immune System Diseases
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Aids-Like Syndrome
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Hiv Positive Nos
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Immune Disorder
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Hiv Disease Nos
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Hypoimmunity
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Hiv Disease
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Hyper Igm
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Hiv Nos
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Cfdd
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Hiv
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Arc
基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
Immunodeficiency, also known as immunocompromise, can be acquired through extrinsic factors like HIV infection or genetic diseases like SCID. It can result from missing or malfunctioning essential parts of the immune system due to genetic mutations. Factor D deficiency is an autosomal recessive disorder leading to increased susceptibility to bacterial infections. Another form of immune deficiency is characterized by an inability to mount a normal immune response due to antibody defects. Additionally, a nonfamilial primary immune deficiency disease involves a reduction in at least two serum immunoglobulin isotypes, with normal or low circulating B cells.
相关ID：
基础信息
遗传方式 | 发病时间 | 患病率/发病率 | 相关基因 | 相关模型 | 参考文献 | MALACARDS |
|---|---|---|---|---|---|---|
AR 常染色体隐性遗传 | 未知 | 1-9/100000 时点患病率： 1-9/100000 (Norway, Spain, Netherlands, United Kingdom, Italy, Germany, Turkey, Poland, New Zealand, Korea, Republic of, Oman) 1-5/10000 (France) | 2328 | 19658 | 15 |
疾病表征
当前疾病关联的表型信息：
分类：疾病表征所属解剖分类；
HPO概率/Orphanet概率：对应表征在当前疾病的发生概率，可根据发生概率进行排序；
HPO来源：跳转至HPO查看表征详情。
数据来源：HPO、Orphanet
基因 & 突变
当前疾病关联的基因及其突变：
作用分类：基因的主要生物学作用；
分值：疾病与基因之间的关联强度，分值越高，关联越紧密；
突变数量：疾病与基因相关的突变数量，括号内数字为同一Clinvar ID关联的数据总量，点击数字即可查看突变详情。
数据来源：Clinvar
靶点药物
与当前基因相关药物，展示CAS号、研发与临床试验状态。
数据来源：Clinical Trials
相关模型
当前基因相关的小鼠模型，点击模型名称，可查看模型详情。
数据来源：MGI
文献报道
当前基因最为密切相关的文献，可按年份、文献类型筛选，并可根据影响因子排序。
数据来源：Uniprot、PubMed