Phenotype: Severe infection (HP:0032169)
Associated genes and diseases:
gene_symbol: RAG1
disease_id: OMIM:601457
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
gene_symbol: RAG2
disease_id: OMIM:601457
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE
gene_symbol: CD3D
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD3E
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: IL7R
disease_id: OMIM:608971
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: STAT1
disease_id: OMIM:614892
disease_name: IMMUNODEFICIENCY 31A
gene_symbol: STAT1
disease_id: OMIM:613796
disease_name: IMMUNODEFICIENCY 31B
gene_symbol: SNORA31
disease_id: OMIM:619396
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10
gene_symbol: TLR3
disease_id: OMIM:613002
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: IRF3
disease_id: OMIM:616532
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
gene_symbol: TICAM1
disease_id: OMIM:614850
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
gene_symbol: UNC93B1
disease_id: OMIM:610551
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 1
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: TRAF3
disease_id: OMIM:614849
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: CD28
disease_id: OMIM:620901
disease_name: OMIM:620901
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: IKZF3
disease_id: OMIM:619437
disease_name: IMMUNODEFICIENCY 84
gene_symbol: STK4
disease_id: OMIM:614868
disease_name: T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS
gene_symbol: IL7
disease_id: OMIM:618309
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: TMC8
disease_id: OMIM:618231
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: ADORA2A
disease_id: ORPHA:363549
disease_name: Acute encephalopathy with biphasic seizures and late reduced diffusion
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: ISG15
disease_id: OMIM:616126
disease_name: IMMUNODEFICIENCY 38 WITH BASAL GANGLIA CALCIFICATION
gene_symbol: TAP2
disease_id: OMIM:620813
disease_name: MHC CLASS I DEFICIENCY 2
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
gene_symbol: IKBKG
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: TLR7
disease_id: OMIM:301051
disease_name: IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: CARD11
disease_id: OMIM:617638
disease_name: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: DNASE2
disease_id: OMIM:619858
disease_name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: FCGR3B
disease_id: ORPHA:464370
disease_name: Neonatal alloimmune neutropenia
gene_symbol: PRPS1
disease_id: ORPHA:1187
disease_name: Lethal ataxia with deafness and optic atrophy
Arts syndrome
Lethal ataxia with hearing loss and optic atrophy
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: HBB
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: BCL11A
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: KLF1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG2
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: MECP2
disease_id: OMIM:300260
disease_name: LUBS X-LINKED MENTAL RETARDATION SYNDROME
gene_symbol: CXCR2
disease_id: OMIM:619407
disease_name: WHIM SYNDROME 2
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: CD70
disease_id: OMIM:618261
disease_name: LYMPHOPROLIFERATIVE SYNDROME 3
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: TRAC
disease_id: OMIM:615387
disease_name: T-CELL RECEPTOR-ALPHA/BETA DEFICIENCY
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: PGM3
disease_id: OMIM:615816
disease_name: IMMUNODEFICIENCY 23
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: DBR1
disease_id: OMIM:619441
disease_name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
gene_symbol: IRF7
disease_id: OMIM:616345
disease_name: IMMUNODEFICIENCY 39
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1