| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
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immunodeficiency 43
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IMD43; B2M deficiency; beta-2-microglobulin defici..
[+]
IMD43; B2M deficiency; beta-2-microglobulin deficiency; hypercatabolic hypoproteinemia
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.
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immunodeficiency 56
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IL21R immunodeficiency; IMD56; combined immunodefi..
[+]
IMD56; IL21R immunodeficiency; combined immunodeficiency due to IL21R deficiency
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A combined T cell and B cell immunodeficiency char.. [+]A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.
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immunodeficiency 52
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IMD52; severe combined immunodeficiency due to LAT..
[+]
IMD52; severe combined immunodeficiency due to LAT deficiency
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A T cell deficiency characterized by onset of seve.. [+]A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
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immunodeficiency 58
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IMD58; severe combined immunodeficiency due to CAR..
[+]
IMD58; severe combined immunodeficiency due to CARMIL2 deficiency
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A combined T cell and B cell immunodeficiency char.. [+]A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1.
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immunodeficiency 32B
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immunodeficiency 32B, monocyte and dendritic cell ..
[+]
immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive; IMD32B; autosomal recessive IRF8 deficiency
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A monocyte, dendritic cell, and NK cell deficiency.. [+]A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
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immunodeficiency 32A
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immunodeficiency 32A, mycobacteriosis, autosomal d..
[+]
immunodeficiency 32A, mycobacteriosis, autosomal dominant; IMD32A; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; MSMD due to partial IRF8 deficiency
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A dendritic cell deficiency characterized by marke.. [+]A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1.
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immunodeficiency 13
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IMD13; idiopathic CD4 lymphopenia; ICL
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A T cell deficiency characterized by decreased CD4.. [+]A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2.
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immunodeficiency 12
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IMD12; combined immunodeficiency due to MALT1 defi..
[+]
IMD12; combined immunodeficiency due to MALT1 deficiency
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A combined immunodeficiency characterized by decre.. [+]A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32.
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immunodeficiency 35
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IMD35; autosomal recessiv HIES with atypical mycob..
[+]
IMD35; autosomal recessiv HIES with atypical mycobacteriosis; autosomal recessive hyper-IgE syndrome with atypical mycobacteriosis; susceptibility to infection due to TYK2 deficiency; TYK2 deficiency; tyrosine kinase 2 deficiency
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2.
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immunodeficiency 30
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IMD30; Mendelian susceptibility to interleukin 12 ..
[+]
IMD30; Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency; MSMD due to complete IL12RB1 deficiency; MSMD due to complete interleukin 12 receptor beta 1 deficiency
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A T cell and NK cell immunodeficiency characterize.. [+]A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11.
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immunodeficiency 62
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IMD62
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A B cell deficiency characterized by onset late in.. [+]A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2.
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immunodeficiency 53
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IMD53
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A combined T cell and B cell immunodeficiency char.. [+]A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.
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immunodeficiency 55
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IMD55; combined immunodeficiency due to GINS1 defi..
[+]
IMD55; combined immunodeficiency due to GINS1 deficiency
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A combined immunodeficiency characterized by intra.. [+]A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21.
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immunodeficiency 45
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IMD45
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11.
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immunodeficiency 28
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IMD28; immunodeficiency 28, mycobacteriosis; IFNGR..
[+]
immunodeficiency 28, mycobacteriosis; IMD28; IFNGR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency; MSMD due to complete IFNgammaR2 deficiency; MSMD due to complete interferon gamma receptor 2 deficiency
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11.
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immunodeficiency 51
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IMD51; CANDF5; familial candidiasis 5
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1.
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immunodeficiency 63
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immunodeficiency 63 with lymphoproliferation and a..
[+]
immunodeficiency 63 with lymphoproliferation and autoimmunity; IMD63; IL2RB deficiency
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A T cell and NK cell immunodeficiency characterize.. [+]A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3.
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immunodeficiency 66
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IMD66
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A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2.
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immunodeficiency 61
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IMD61
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A B cell deficiency characterized by onset in earl.. [+]A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12.
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immunodeficiency 34
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immunodeficiency 34, mycobacteriosis, X-linked; IM..
[+]
immunodeficiency 34, mycobacteriosis, X-linked; IMD34; AMCBX2; familial atypical mycobacteriosis X-linked 2; X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency; X-linked MSMD due to CYBB deficiency
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A phagocyte bactericidal dysfunction characterized.. [+]A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4.
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