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  2. Severe Combined Immunodeficiency (absent T absent B cells)

Severe Combined Immunodeficiency (absent T absent B cells) (Version 1.8)

Level 2: Immunological disorders

Relevant disorders: Severe combined immunodeficiency, HP:0004430
Panel types: Melbourne Genomics, Victorian Clinical Genetics Services, Rare Disease
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

5 reviewers

  • Danielle Ariti (University of Melbourne)

  • Peter McNaughton (Queensland Children's Hospital)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Santosh Varughese (University of Melbourne)

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

13 Entities

13 reviewed, 12 green

List Entity Reviews Mode of inheritance Details
13 Entitiess
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 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 List (high evidence)
DCLRE1C
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, Athabascan type MIM# 602450
  • Absent/reduced T and B cells
  • decreased Ig levels
  • Normal NK cell number
  • increased risk of graft rejection possibly due to activated NK cells
  • radiation sensitivity
  • failure to thrive
  • recurrent respiratory infections
  • diarrhoea
  • fever
  • hypogammmaglobulinaemia
Tags
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 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 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 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 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 List (high evidence)
PSMB10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Severe combined immunodeficiency, MONDO:0015974, PSMB10-related
Tags
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 List (high evidence)
RAG1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Severe combined immunodeficiency, B cell-negative (MIM#601457)
Tags
Green List (high evidence)
RAG2
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, B cell-negative (MIM#601457)
Tags
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

Major version comments

  • 2021-08-26 07:22 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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