PanelApp (test)
  1. Panels
  2. Defects of intrinsic and innate immunity
Description
This panel contains genes that cause defects in intrinsic and innate immunity, including the following:
- Mendelian susceptibility to mycobacterial disease (MSMD)
- Epidermodysplasia verruciformis (HPV)
- Predisposition to severe viral infection
- Herpes simplex encephalitis (HSE)
- Predisposition to mucocutaneous candidiasis
- Other inborn errors of immunity related to non-haematopoietic tissues
- Other inborn errors of immunity related to leukocytes
Updated with the July 2024 International Union of Immunological Societies Inborn Errors of Immunity Committee classifications.

This panel was originally developed for the Melbourne Genomics Immunology Flagship by Dr Vanessa Bryant (Walter and Eliza Hall Institute) and Dr Charlotte Slade (Royal Melbourne Hospital).
Panel Activity

5 reviewers

  • Peter McNaughton (Queensland Children's Hospital)

  • Achchuthan Shanmugasundram (Genomics England)

  • Sarah Pantaleo (Victorian Clinical Genetics Services)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services)

62 Entities

reviewed, green

List Entity Reviews Mode of inheritance Details
62 Entitiess
Green Green List (high evidence)
CARD9
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 2, autosomal recessive, MIM# 212050
  • Predisposition to invasive fungal disease, MONDO:0008905
Tags
Green Green List (high evidence)
CIB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epidermodysplasia verruciformis 3 618267
  • HPV infections and cancer of the skin
Tags
Green Green List (high evidence)
CLCN7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 4 MIM#611490
Tags
Green Green List (high evidence)
CXCR4
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • WHIM syndrome 1, MIM# 193670
Tags
Green Green List (high evidence)
CYBB
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Chronic granulomatous disease, X-linked, MIM# 306400
Tags
Green Green List (high evidence)
DBR1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0030334
Tags
Green Green List (high evidence)
HMOX1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Heme oxygenase-1 deficiency, MIM# 614034
  • Asplenia
Tags
Green Green List (high evidence)
IFIH1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 95 MIM#619773
Tags
Green Green List (high evidence)
IFNAR1
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • immunodeficiency 106, susceptibility to viral infections MONDO:0030970
Tags
Green Green List (high evidence)
IFNAR2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • immunodeficiency 45 MONDO:0014727
Tags
Green Green List (high evidence)
IFNGR1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950
  • Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978
Tags
Green Green List (high evidence)
IFNGR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 28, mycobacteriosis, MIM# 614889
Tags
Green Green List (high evidence)
IL12B
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 29, mycobacteriosis, MIM# 614890
Tags
Green Green List (high evidence)
IL12RB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 30, MIM# 614891
Tags
Green Green List (high evidence)
IL17RA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 51, MIM# 613953
  • MONDO:0013500
Tags
Green Green List (high evidence)
IL17RC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 9, MIM# 616445
  • MONDO:0014642
Tags
Green Green List (high evidence)
IL23R
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency disease, MONDO:0021094
  • Susceptibility to mycobacteria and Salmonella
Tags
Green Green List (high evidence)
IRAK4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 67, MIM# 607676
Tags
Green Green List (high evidence)
IRF1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 117, mycobacteriosis, autosomal recessive, MIM# 620668
Tags
Green Green List (high evidence)
IRF4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 131, MIM# 621097
Tags
Green Green List (high evidence)
IRF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 39, MIM# 616345
Tags
Green Green List (high evidence)
IRF8
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 32A, mycobacteriosis, autosomal dominant, MIM# 614893
  • Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990
Tags
Green Green List (high evidence)
ISG15
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 38, MIM# 616126
Tags
Green Green List (high evidence)
MCTS1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Inherited susceptibility to mycobacterial diseases, MONDO:0019146, MCTS1-related
Tags
Green Green List (high evidence)
MYD88
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 68, MIM# 612260
Tags
Green Green List (high evidence)
NBAS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800
  • Infantile liver failure syndrome 2 MIM#616483
Tags
Green Green List (high evidence)
NCSTN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acne inversa, familial, 1 MIM#142690
Tags
Green Green List (high evidence)
OAS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • Autoinflammation and autoimmunity, systemic, with immune dysregulation 2, MIM# 621409
Tags
Green Green List (high evidence)
OSTM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 5 MIM#259720
Tags
Green Green List (high evidence)
PLEKHM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 6 MIM#611497
Tags
Green Green List (high evidence)
PSEN1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • ?Acne inversa, familial, 3 MIM#613737
Tags
Green Green List (high evidence)
PSENEN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736
Tags
Green Green List (high evidence)
RANBP2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Tags
Green Green List (high evidence)
RORC
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 42, MIM# 616622
Tags
Green Green List (high evidence)
RPSA
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Asplenia, isolated congenital, MIM# 271400
Tags
Green Green List (high evidence)
SNORA31
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Tags
  • non-coding gene
Green Green List (high evidence)
SNX10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 8 MIM#615085
Tags
Green Green List (high evidence)
STAT1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
STAT2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBK1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TCIRG1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 1 MIM#259700
Tags
Green Green List (high evidence)
TICAM1
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TLR3
2 reviews
2 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TLR7
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 74, COVID-19-related, X-linked MONDO:0026767
Tags
Green Green List (high evidence)
TLR8
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078
Tags
Green Green List (high evidence)
TMC6
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TMC8
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Epidermodysplasia verruciformis 2, MIM# 618231
Tags
Green Green List (high evidence)
TNFRSF11A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 7 MIM#612301
Tags
Green Green List (high evidence)
TNFSF11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Osteopetrosis, autosomal recessive 2 MIM#259710
Tags
Green Green List (high evidence)
TYK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 35, MIM# 611521
Tags
Green Green List (high evidence)
ZNFX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Literature
Phenotypes
  • immunodeficiency 91 and hyperinflammation MONDO:0030491
Tags
Amber Amber List (moderate evidence)
FCGR3A
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 20, MIM# 615707
Tags
Amber Amber List (moderate evidence)
IFNG
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • inherited susceptibility to mycobacterial diseases MONDO:0019146
Tags
Amber Amber List (moderate evidence)
IRF3
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • encephalitis, acute, infection-induced, susceptibility to MONDO:0800174
Tags
Amber Amber List (moderate evidence)
JAK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Susceptibility to mycobacteria and viruses
  • Viral infections
  • Autoinflammation, immunde dysregulation, and eosinophilia, MIM# 618999
Tags
Amber Amber List (moderate evidence)
MAPK8
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Chronic mucocutaneous candidiasis
  • Connective tissue disorders
Tags
Amber Amber List (moderate evidence)
POLR3A
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • varicella zoster infection MONDO:0005608
Tags
Amber Amber List (moderate evidence)
POLR3C
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • varicella zoster infection MONDO:0005608
Tags
Amber Amber List (moderate evidence)
SPPL2A
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 86, MIM#619549
  • Susceptibility to mycobacteria and Salmonella
Tags
Amber Amber List (moderate evidence)
TBX21
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 88, MIM# 619630
  • Susceptibility to mycobacterial disease
Tags
Amber Amber List (moderate evidence)
TRAF3IP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Candidiasis, familial, 8, MIM# 615527
Tags
Amber Amber List (moderate evidence)
UNC93B1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1
Tags

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