Phenotype: Abnormal T cell count (HP:0011839)
Associated genes and diseases:
gene_symbol: ADA
disease_id: ORPHA:277
disease_name: Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: DNMT3B
disease_id: OMIM:242860
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1
gene_symbol: STAT1
disease_id: ORPHA:391487
disease_name: STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
gene_symbol: RECQL4
disease_id: ORPHA:3021
disease_name: RAPADILINO syndrome
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: TBX2
disease_id: OMIM:618223
disease_name: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: FOXN1
disease_id: OMIM:601705
disease_name: T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY
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: FOXN1
disease_id: OMIM:618806
disease_name: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
gene_symbol: FOXN1
disease_id: ORPHA:169095
disease_name: Severe combined immunodeficiency due to FOXN1 deficiency
Alymphoid cystic thymic dysgenesis
Nude/SCID
Nude/severe combined immunodeficiency
SCID due to FOXN1 deficiency
Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome
Winged helix deficiency
gene_symbol: RFX5
disease_id: OMIM:620816
disease_name: MHC CLASS II DEFICIENCY 3
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: IL7
disease_id: OMIM:618309
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
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: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: UNC119
disease_id: OMIM:615518
disease_name: IMMUNODEFICIENCY 13
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
gene_symbol: JAK3
disease_id: ORPHA:35078
disease_name: T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ SCID due to JAK3 deficiency
gene_symbol: FCHO1
disease_id: OMIM:619164
disease_name: IMMUNODEFICIENCY 76
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: NHEJ1
disease_id: ORPHA:169079
disease_name: Cernunnos-XLF deficiency
Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
gene_symbol: MYD88
disease_id: OMIM:612260
disease_name: IMMUNODEFICIENCY 68
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: CD247
disease_id: OMIM:610163
disease_name: IMMUNODEFICIENCY 25
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: CD3D
disease_id: OMIM:615617
disease_name: IMMUNODEFICIENCY 19
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
gene_symbol: WIPF1
disease_id: OMIM:614493
disease_name: WISKOTT-ALDRICH SYNDROME 2
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: CD8A
disease_id: OMIM:608957
disease_name: CD8 DEFICIENCY, FAMILIAL
gene_symbol: TNFRSF13C
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: TNFRSF13C
disease_id: OMIM:613494
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 4
gene_symbol: ICOS
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: CD19
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: TNFRSF13B
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CR2
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: MS4A1
disease_id: OMIM:613495
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 5
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: RAG1
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG2
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: BTK
disease_id: OMIM:307200
disease_name: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: HLA-DPB1
disease_id: ORPHA:133
disease_name: Chronic beryllium disease
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: ATP6AP2
disease_id: OMIM:301045
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: SEC61A1
disease_id: OMIM:617056
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: CD4
disease_id: OMIM:619238
disease_name: IMMUNODEFICIENCY 79
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: MYC
disease_id: ORPHA:543
disease_name: Burkitt lymphoma
Small non-cleaved cell lymphoma
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: GATA2
disease_id: OMIM:614038
disease_name: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA
gene_symbol: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
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: 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: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: BCL10
disease_id: OMIM:616098
disease_name: IMMUNODEFICIENCY 37
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24