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Disease	Synonyms	Description
immunodeficiency 14	IMD14; activated PI3K-delta syndrome; APDS; PASLI .. [+] IMD14; activated PI3K-delta syndrome; APDS; PASLI disease; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation [-]	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. [-]
immunodeficiency 22	IMD22; SCID due to lymphocyte-specific protein tyr.. [+] IMD22; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; severe combined immunodeficiency due to LCK deficiency; severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency; SCID due to LCK deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. [-]
immunodeficiency 24	IMD24; SCID due to CTPS1 deficiency; severe combin.. [+] IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency [-]	A severe combined immunodeficiency characterized b..[+] A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. [-]
immunodeficiency 37	IMD37	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. [-]
immunodeficiency 42	IMD42; autosomal recessive mendelian susceptibilit.. [+] IMD42; autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency; autosomal recessive MSMD due to complete RORgamma receptor defiency; autosomal recessive primary immunodeficiency due to RORC mutation [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. [-]
immunodeficiency 20	IMD20; autosomal recessive primary immunodeficienc.. [+] IMD20; autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity; CD16 deficiency; autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. [-]
immunodeficiency 25	IMD25; immunodeficiency due to defect in CD3-zeta; .. [+] immunodeficiency due to defect in CD3-zeta; IMD25 [-]	A T cell deficiency characterized by decreased T c..[+] A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. [-]
immunodeficiency 48	IMD48; combined immunodeficiency due to ZAP70 defi.. [+] IMD48; combined immunodeficiency due to ZAP70 deficiency; zeta-associated-protein 70 deficiency [-]	A T cell deficiency characterized by a selective T..[+] A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. [-]
immunodeficiency 31B	IMD31B; autosomal recessive immunodeficiency 31B, .. [+] IMD31B; autosomal recessive immunodeficiency 31B, mycobacterial and viral infections; autosomal recessive STAT1 deficiency; predisposition to severe viral infection due to STAT1 deficiency; susceptibility to viral and mycobacterial infections due to STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 31A	IMD31A; autosomal dominant immunodeficiency 31A, m.. [+] IMD31A; autosomal dominant immunodeficiency 31A, mycobacteriosis; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; MSMD due to partial STAT1 deficiency [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
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. [-]

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