PanelApp
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  2. Severe Combined Immunodeficiency
Description
This panel contains genes associated with severe combined immunodeficiency (SCID), including the following:
- SCID with absent T present B cells
- SCID with absent T absent B cells

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

8 reviewers

  • Danielle Ariti (University of Melbourne)

  • Peter McNaughton (Queensland Children's Hospital)

  • Chirag Patel (Genetic Health Queensland)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Krithika Murali (Victorian Clinical Genetics Services)

28 Entities

28 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
28 Entitiess
Green Green List (high evidence)
ADA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency due to ADA deficiency, MIM# 102700
  • MONDO:0007064
Tags
Green Green List (high evidence)
AK2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Reticular dysgenesis MIM# 267500
  • MONDO:0009973
  • Combined immunodeficiency
  • neutropaenia
  • leukopaenia
  • lymphopaenia
  • agranulocytosis
  • deafness
Tags
  • treatable
Green Green List (high evidence)
CD247
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 25, MIM# 610163
  • Absent T cells
  • Normal B cells
  • Normal NK cells
Tags
Green Green List (high evidence)
CD3D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 19 MIM# 615617
Tags
  • treatable
Green Green List (high evidence)
CD3E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 18 MIM# 615615
Tags
  • treatable
Green Green List (high evidence)
CORO1A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 8, MIM# 615401
Tags
  • treatable
Green Green List (high evidence)
DCLRE1C
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Severe combined immunodeficiency due to DCLRE1C deficiency, MONDO:0011225
Tags
Green Green List (high evidence)
FOXN1
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominan, MIM#t 618806
Tags
Green Green List (high evidence)
IL2RG
1 review
1 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
  • Combined immunodeficiency, X-linked, moderate MIM# 312863
  • Severe combined immunodeficiency, X-linked MIM# 300400
  • recurrent viral/fungal/bacterial infections
  • Low T/NK cells
  • Low Ig levels
  • lymphocytopaenia
  • hypogammaglobulinaemia
  • failure to thrive
  • diarrhoea
  • Pneumonia
  • Thymic hypoplasia
Tags
Green Green List (high evidence)
IL7R
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • severe combined immunodeficiency 104 MIM#608971
Tags
Green Green List (high evidence)
JAK3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • SCID, autosomal recessive, T-negative/B-positive type MIM# 600802
Tags
  • treatable
Green Green List (high evidence)
LAT
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Immunodeficiency 52, MIM# 617514
Tags
Green Green List (high evidence)
LIG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 96, MIM# 619774
Tags
Green Green List (high evidence)
LIG4
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • LIG4 syndrome MIM# 606593
  • T-/B-lymphocytopaenia
  • Normal NK, radiation sensitivity
  • Microcephaly
  • absent/low B and T cells
  • low Ig
  • raised IgM
  • failure to thrive
  • bacterial/viral/fungal infections
  • hypogammaglobulinaemia
  • neurodevelopmental delay
  • microcephaly
  • pancytopaenia
Tags
  • treatable
Green Green List (high evidence)
NHEJ1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM# 611291
  • MONDO:0012650
Tags
Green Green List (high evidence)
NUDCD3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Severe combined immunodeficiency
  • omenn syndrome
Tags
Green Green List (high evidence)
PAX1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic SCID
  • dysmorphism
  • ear abnormalities
  • Otofaciocervical syndrome 2, MIM# 615560
Tags
Green Green List (high evidence)
PRKDC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Immunodeficiency 26, with or without neurologic abnormalities MIM# 615966
  • Absent T and B cells
  • normal NK cells
  • SCID
  • recurrent respiratory infections
  • microcephaly
  • seizures
  • developmental delay
Tags
Green Green List (high evidence)
PTPRC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971
  • Hepatitis C virus, susceptibility to MIM# 609532
Tags
Green Green List (high evidence)
RAC2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • SCID
  • recurrent bacterial and viral infections
  • lymphoproliferation
  • neutropaenia
  • reticular dysgenesis
  • deafness
Tags
Green Green List (high evidence)
RAG1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Recombinase activating gene 1 deficiency MONDO:0000572
Tags
Green Green List (high evidence)
RAG2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Recombinase activating gene 2 deficiency MONDO:0000573
Tags
Green Green List (high evidence)
TP63
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations, MONDO:1040001
Tags
Amber Amber List (moderate evidence)
DMRT2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • skeletal dysplasia MONDO:0018230
  • DMRT2-related
Tags
Amber Amber List (moderate evidence)
LCP2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 81, MIM# 619374
  • Severe combined immunodeficiency
Tags
Amber Amber List (moderate evidence)
POLD3
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 122, MIM# 620869
Tags
Red Red List (low evidence)
ITPKB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe combined immunodeficiency, absent T cells, present B cells and NK cells
Tags
Red Red List (low evidence)
PSMB10
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Severe combined immunodeficiency, MONDO:0015974, PSMB10-related
Tags

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