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Immune Deficiency Disease (HIV)
Alias:
Immunodeficiency
|
Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
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
|
Hiv
|
Arc
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
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.
Related ID:
MALACARDS: IMM167
|
OMIM: 242850
|
MESH: D007153
|
ICD11: 1000704511
Basic Information
Inheritance
Age of Onset
Prevalence
Related Genes
Related Mouse Models
Reference
MALACARDS
AR
Autosomal recessive
Unknown
1-5/10000
Point prevalence:
1-5/10000 (France)
1-9/100000 (Norway, Spain, Netherlands, United Kingdom, Italy, Germany, Turkey, Poland, New Zealand, Korea, Republic of, Oman)
2328
19658
15
IMM167
Medical Symptom
Phenotype Information Associated with the Current Disease:
Categorization: Anatomical classification of the disease manifestations.
HPO Frequency/Orphanet Frequency: Indicates the probability of the manifestation occurring in the current disease, allowing sorting by probability.
HPO Source Accession: Links to HPO for detailed manifestation information.
Data Source: HPO, Orphanet
Gene & Mutation
Genes and Mutations Associated with the Current Disease:
Function: Primary biological roles of the genes.
Score: Indicates the strength of the association between the disease and the gene, with higher scores reflecting stronger associations.
Count: Number of mutations associated with the disease-gene pair. The number in parentheses represents the total data points linked to the same ClinVar ID. Clicking the number reveals mutation details.
Data Source: Clinvar
Related Drugs
Drugs Related to the Current Gene, Displaying CAS Number, Status and Phase.
Data Source: Clinical Trials
Related Mouse Models
Mouse Models Related to the Current Gene. Click on the model name to view detailed information.
Data Source: MGI, Cyagen
References Literature
Most Relevant Literature for the Current Gene, Filterable by Year, Article Type, and Sortable by Impact Factor.
Data Source: UniProt, PubMed
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