PanelApp (test)
  1. Panels
  2. Severe Combined Immunodeficiency (absent T present B cells)
Description
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). It is currently maintained by VCGS.

Updated with the 2019 International Union of Immunological Societies Committee classification, Tangye et al.
Panel Activity

4 reviewers

  • Danielle Ariti (University of Melbourne)

  • Peter McNaughton (Queensland Children's Hospital)

  • Bryony Thompson (Royal Melbourne Hospital)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

13 Entities

13 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
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)
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, T-cell negative, B-cell/natural killer cell-positive type MIM# 608971
  • low T-cell numbers
  • normal-high B and NK-cell numbers
  • fever
  • rash
  • failure to thrive
  • recurrent respiratory and gastric infections
  • Hepatomegaly
  • Splenomegaly
  • diarrhoea
  • lymphadenopathy
  • pneumonitis
  • Pancytopaenia
  • decreased immunoglobulins
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)
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)
POLD3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 122, MIM# 620869
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
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

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