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Disease	Synonyms	Description
immunodeficiency 31C	IMD31C; autoimmune enteropathy and endocrinopathy-.. [+] IMD31C; autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome; autosomal dominant chronic mucocutaneous familial candidiasis; autosomal dominant immunodeficiency 31C; CANDF7; familial candidiasis 7 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 21	IMD21; combined immunodeficiency with susceptibili.. [+] IMD21; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 46	IMD46; CID due to TFRC deficiency; combined immuno.. [+] IMD46; CID due to TFRC deficiency; combined immunodeficiency due to TFRC deficiency; TFRC-related combined immunodeficiency [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. [-]
immunodeficiency 36	IMD36; activated phosphoinositide 3-kinase delta s.. [+] IMD36; activated phosphoinositide 3-kinase delta syndrome 2 [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. [-]
immunodeficiency 29	IMD29; immunodeficiency 29, mycobacteriosis; IL12B.. [+] immunodeficiency 29, mycobacteriosis; IMD29; IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency; Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency; MSMD due to complete IL12B deficiency; MSMD due to complete interleukin 12B deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. [-]
immunodeficiency 40	IMD40; DOCK2 deficiency	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. [-]
immunodeficiency 57	immunodeficiency 57 with autoinflammation; immune .. [+] immunodeficiency 57 with autoinflammation; immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome; IMD57 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. [-]
immunodeficiency 23	IMD23; CID due to PGM3 deficiency; combined immuno.. [+] IMD23; CID due to PGM3 deficiency; combined immunodeficiency due to PGM3 deficiency; PGM3-CDG; PGM3-related congenital disorder of glycosylation [-]	A combined T cell and B cells immunodeficiency cha..[+] A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. [-]
immunodeficiency 60	IMD60; BACH2-related immunodeficiency and autoimmu.. [+] IMD60; BACH2-related immunodeficiency and autoimmunity; BRIDA [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. [-]
immunodeficiency 27A	IMD27A; autosomal recessive IFNGR1 deficiency; aut.. [+] IMD27A; autosomal recessive IFNGR1 deficiency; autosomal recessive immunodeficiency 27A, mycobacteriosis; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency; autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency; autosomal recessive MSMD due to partial IFNgammaR1 deficiency; autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. [-]
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. [-]
immunodeficiency 43	IMD43; B2M deficiency; beta-2-microglobulin defici.. [+] IMD43; B2M deficiency; beta-2-microglobulin deficiency; hypercatabolic hypoproteinemia [-]	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. [-]
immunodeficiency 56	IL21R immunodeficiency; IMD56; combined immunodefi.. [+] IMD56; IL21R immunodeficiency; combined immunodeficiency due to IL21R deficiency [-]	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. [-]
immunodeficiency 52	IMD52; severe combined immunodeficiency due to LAT.. [+] IMD52; severe combined immunodeficiency due to LAT deficiency [-]	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. [-]
immunodeficiency 58	IMD58; severe combined immunodeficiency due to CAR.. [+] IMD58; severe combined immunodeficiency due to CARMIL2 deficiency [-]	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. [-]
immunodeficiency 32B	immunodeficiency 32B, monocyte and dendritic cell .. [+] immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive; IMD32B; autosomal recessive IRF8 deficiency [-]	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. [-]
immunodeficiency 32A	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 [-]	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. [-]
immunodeficiency 13	IMD13; idiopathic CD4 lymphopenia; ICL	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. [-]
immunodeficiency 12	IMD12; combined immunodeficiency due to MALT1 defi.. [+] IMD12; combined immunodeficiency due to MALT1 deficiency [-]	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. [-]
immunodeficiency 35	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 [-]	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. [-]
immunodeficiency 30	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 [-]	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. [-]
immunodeficiency 62	IMD62	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. [-]
immunodeficiency 53	IMD53	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. [-]
immunodeficiency 55	IMD55; combined immunodeficiency due to GINS1 defi.. [+] IMD55; combined immunodeficiency due to GINS1 deficiency [-]	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. [-]
immunodeficiency 45	IMD45	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. [-]
immunodeficiency 28	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 [-]	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. [-]
immunodeficiency 51	IMD51; CANDF5; familial candidiasis 5	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. [-]
immunodeficiency 63	immunodeficiency 63 with lymphoproliferation and a.. [+] immunodeficiency 63 with lymphoproliferation and autoimmunity; IMD63; IL2RB deficiency [-]	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. [-]
immunodeficiency 66	IMD66	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. [-]
immunodeficiency 61	IMD61	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. [-]
immunodeficiency 34	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 [-]	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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