Phenotype: Combined immunodeficiency (HP:0005387)
Associated genes and diseases:
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: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: PNP
disease_id: ORPHA:760
disease_name: Purine nucleoside phosphorylase deficiency
PNP deficiency
PNPase deficiency
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: TTC7A
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: ADA
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: BCL11B
disease_id: OMIM:617237
disease_name: IMMUNODEFICIENCY 49
gene_symbol: PRKDC
disease_id: OMIM:615966
disease_name: IMMUNODEFICIENCY 26 WITH OR WITHOUT NEUROLOGIC ABNORMALITIES
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: PI4KA
disease_id: ORPHA:436252
disease_name: Combined immunodeficiency-enteropathy spectrum
CID-MIA/early-onset IBD
gene_symbol: XRCC4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: LIG4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: LIG4
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: RMRP
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: PSMB10
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: CHD7
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: IL7R
disease_id: ORPHA:39041
disease_name: Omenn syndrome
Combined immunodeficiency with hypereosinophilia
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: CD3D
disease_id: OMIM:615617
disease_name: IMMUNODEFICIENCY 19
gene_symbol: DIAPH1
disease_id: ORPHA:477814
disease_name: Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: ACP5
disease_id: OMIM:607944
disease_name: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
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: 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: PIK3R1
disease_id: ORPHA:693681
disease_name: ORPHA:693681
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
gene_symbol: NFKB2
disease_id: OMIM:615577
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 10
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: NFKB1
disease_id: OMIM:616576
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 12
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
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: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: RAG1
disease_id: OMIM:233650
disease_name: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
gene_symbol: RAG2
disease_id: OMIM:233650
disease_name: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: BUB1B
disease_id: OMIM:257300
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1