| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
immunodeficiency 27B
|
IMD27B; autosomal dominant IFNGR1 deficiency; auto..
[+]
IMD27B; autosomal dominant IFNGR1 deficiency; autosomal dominant immunodeficiency 27B, mycobacteriosis; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal dominant MSMD due to partial IFNgammaR1 deficiency; autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
[-]
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3.
[-]
|
|
|
|
immunodeficiency 11A
|
IMD11A; CARD11 deficiency; SCID due to CARD11 defi..
[+]
IMD11A; CARD11 deficiency; SCID due to CARD11 deficiency; severe combined immunodeficiency due to CARD11 deficiency
[-]
|
A severe combined immunodeficiency characterized b.. [+]A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
[-]
|
|
|
|
immunodeficiency 11B
|
immunodeficiency 11B with atopic dermatitis; IMD11..
[+]
immunodeficiency 11B with atopic dermatitis; IMD11B; atopic dermatitis, elevated IgE, and eosinophilia
[-]
|
A T cell deficiency characterized by defects in T-.. [+]A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2.
[-]
|
|
|
|
immunodeficiency 15B
|
IMD15B
|
A severe combined immunodeficiency characterized b.. [+]A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21.
[-]
|
|
|
|
immunodeficiency 15A
|
IMD15A
|
A combined T cell and B cell immunodeficiency char.. [+]A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21.
[-]
|
|
|
|
immunodeficiency 26
|
immunodeficiency 26, with or without neurologic ab..
[+]
immunodeficiency 26, with or without neurologic abnormalities; IMD26; SCID due to DNA-PKcs deficiency; severe combined immunodeficiency due to DNA-PKcs deficiency
[-]
|
A severe combined immunodeficiency characterized b.. [+]A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21.
[-]
|
|
|
|
immunodeficiency 54
|
IMD54; familial isolated natural killer cell defic..
[+]
IMD54; familial isolated natural killer cell deficiency; NKCD; primary immunodeficiency due to MCM4 deficiency; primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
[-]
|
An NK cell deficiency characterized by severe intr.. [+]An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21.
[-]
|
|
|
|
immunodeficiency 41
|
interleukin-2 receptor alpha chain deficiency; imm..
[+]
interleukin-2 receptor alpha chain deficiency; immunodeficiency due to CD25 deficiency; immunodeficiency 41 with lymphoproliferation and autoimmunity; IMD41; IL2RA deficiency; CD25 deficiency
[-]
|
A combined immunodeficiency characterized by a def.. [+]A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1.
[-]
|
|
|
|
immunodeficiency 39
|
IMD39
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5.
[-]
|
|
|
|
immunodeficiency 10
|
immune dysfunction with T-cell inactivation due to..
[+]
immune dysfunction with T-cell inactivation due to calcium entry defect 2; IMD10; CID due to STIM1 deficiency; combined immunodeficiency due to STIM1 deficiency; STIM1 deficiency
[-]
|
A T cell and NK cell immunodeficiency characterize.. [+]A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4.
[-]
|
|
|
|
immunodeficiency 18
|
IMD18; CD3-epsilon deficiency
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 19
|
IMD19; SCID T cell-negative, B cell-positive, NK c..
[+]
IMD19; SCID T cell-negative, B cell-positive, NK cell-positive; severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive; CD3-delta deficiency
[-]
|
A severe combined immunodeficiency characterized b.. [+]A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 17
|
IMD17; immunodeficiency 17, CD3 gamma deficient; C..
[+]
immunodeficiency 17, CD3 gamma deficient; IMD17; CD3-gamma deficiency; SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
[-]
|
A T cell deficiency characterized by partial T-cel.. [+]A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 59
|
IMD59; immunodeficiency 59 and hypoglycemia; granu..
[+]
immunodeficiency 59 and hypoglycemia; IMD59; granulocytopenia with immunoglobin abnormality
[-]
|
A B cell and dendritic cell deficiency characteriz.. [+]A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3.
[-]
|
|
|
|
immunodeficiency 44
|
IMD44
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3.
[-]
|
|
|
|
immunodeficiency 9
|
immune dysfunction with T-cell inactivation due to..
[+]
immune dysfunction with T-cell inactivation due to calcium entry defect 1; IMD9; CID due to ORAI1 deficiency; combined immunodeficiency due to ORAI1 deficiency
[-]
|
A T cell deficiency characterized by early onset o.. [+]A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.
[-]
|
|
|
|
immunodeficiency 7
|
immunodeficiency 7, TCR-alpha/beta deficient; IMD7..
[+]
immunodeficiency 7, TCR-alpha/beta deficient; IMD7; TCR-alpha-beta-positive T-cell deficiency
[-]
|
A T cell deficiency characterized by decreased or .. [+]A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2.
[-]
|
|
|
|
immunodeficiency 65
|
immunodeficiency 65, susceptibility to viral infec..
[+]
immunodeficiency 65, susceptibility to viral infections; IMD65
[-]
|
A primary immunodeficiency disease characterized b.. [+]A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12.
[-]
|
|
|
|
immunodeficiency 49
|
IMD49; SCID, T-cell negative, B-cell positive, NK ..
[+]
IMD49; SCID, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities; severe combined immunodeficiency, T-cell negative, B-cell positive, NK cell positive, with intellectual disability, spasticity, and craniofacial abnormalities
[-]
|
A T cell deficiency characterized by T cell lympho.. [+]A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2.
[-]
|
|
|
|
immunodeficiency 64
|
IMD64
|
A T cell, B cell, and NK cell deficiency character.. [+]A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14.
[-]
|
|
|
