Description
Combined B and T cell defect eligibility statement:

Relevant diseases:

- A- or hypo-gammaglobulinaemia 
- Agranulocytosis
- Congenital neutropaenia
- SCID
- Combined B and T cell defect

Primary immunodeficiency disorders inclusion criteria (29434)
- Suspected primary immunodeficiency diagnosed by a consultant immunologist, particularly if familial.
- Appropriate available diagnostic tests should have ruled out mutations in relevant known genes.
- All cases must be discussed and approved by the PID-MDT at the recruiting GMC

Primary immunodeficiency disorders exclusion criteria (29434)
- Known genetic cause already identified in proband or family member with similar phenotype.
- Secondary immunodeficiency likely

Prior genetic testing guidance (29434)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29434)
These requirements will be kept under continual review during the main programme and may be subject to change.
Panel Activity

10 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Richard Scott (North Thames GMC/UCL)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Tracy Briggs (Manchester Genomic Medicine Centre)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Peter Arkwright (Royal Manchester Foundation Trust)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Sophie Hambleton (Newcastle University)

    Group: GeCIP domain
    Workplace: Research lab

  • William Rae (University Hospital Southampton NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • emma baple (South West GMC)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

24 Entities

24 reviewed, 21 green

List Entity Reviews Mode of inheritance Details
24 Entitiess
Green Green List (high evidence)
ADA
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • T-B- SCID
  • Severe combined immunodeficiency due to ADA deficiency, 102700
  • T-B+ SCID
Tags
  • gene-therapy-trial
Green Green List (high evidence)
CD27
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • combined immunodeficiency with EBV-associated lymphoproliferation
  • Lymphoproliferative syndrome 2
Tags
Green Green List (high evidence)
CIITA
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
Tags
Green Green List (high evidence)
CORO1A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Combined immunodeficiency
  • hypogammaglobulinaemia, combined immunodeficiency
Tags
Green Green List (high evidence)
DCLRE1C
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe combined immunodeficiency, Athabascan type, 602450
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Tags
Green Green List (high evidence)
DOCK8
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Hyper-IgE recurrent infection syndrome
  • impaired T cell function, Atopy, cutaneous viral infections
Tags
Green Green List (high evidence)
EPG5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Vici syndrome, 242840
  • IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM
Tags
Green Green List (high evidence)
ITK
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • immunodeficiency with lymphoproliferation
  • EBV viraemia, HLH
Tags
Green Green List (high evidence)
LIG4
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • LIG4 syndrome, 606593{Multiple myeloma, resistance to}, 254500
  • Severe combined immunodeficiency with sensitivity to ionizing radiation, 602450
  • Severe Combined Immunodeficiency with Sensitivity to Ionizing Radiation
  • T-B- SCID
  • T-B+ SCID
Tags
Green Green List (high evidence)
MAGT1
4 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia
  • Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
  • XMEN syndrome
  • Chronic active EBV, lymphoproliferation, combined immunodeficiency, impaired t cell function
Tags
Green Green List (high evidence)
NHEJ1
4 reviews
4 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation, 611291
  • T-B- SCID
  • T-B+ SCID
Tags
Green Green List (high evidence)
RAG1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
Tags
Green Green List (high evidence)
RAG2
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Severe Combined Immune Deficiency
  • Severe combined immunodeficiency, B cell-negative, 601457
  • T-B- SCID
  • T-B+ SCID
  • Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Tags
Green Green List (high evidence)
RFX5
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
Tags
Green Green List (high evidence)
RFXANK
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
Tags
Green Green List (high evidence)
RFXAP
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • combined immunodeficiency (MHC class II deficiency, bare lymphocyte syndrome)
Tags
Green Green List (high evidence)
RMRP
4 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • cartilage-hair hypoplasia, with or without immunodeficiency
Tags
  • locus-type-rna-misc
Green Green List (high evidence)
SGPL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nephrotic syndrome 14 617575
Tags
Green Green List (high evidence)
STK4
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypergammaglobulinaemia, lymphopenia, combined immunodeficiency, congenital heart disease, autoimmunity
  • T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
  • AR hyperimmunoglobulin E syndrome
Tags
Green Green List (high evidence)
TCN2
4 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Transcobalamin II deficiency
  • can have a presentation similar to severe combined immunodeficiency
  • pancytopenia
  • neutropenic colitis
  • Agammaglobulinemia
  • megaloblastic bone marrow
  • thrombocytopenia
  • neutropenia
  • failure to thrive
  • hypotonia, myoclonic like movements, pallor, purpura, anaemia, thrombocytopenia, megaloblastosis, aplastic bone marrow.
Tags
Green Green List (high evidence)
WAS
3 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert list
  • Expert Review
  • Expert Review Green
  • Literature
Phenotypes
  • Wiskott Aldrich Syndrome
  • x-linked thrombocytopenia
Tags
  • gene-therapy-trial
Amber Amber List (moderate evidence)
LAT
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Immunodeficiency 52, 617514
Tags
  • watchlist
Red Red List (low evidence)
RAC2
3 reviews
3 red 		Not set
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
Phenotypes
  • T-B- SCID
  • T-B+ SCID
Tags
Red Red List (low evidence)
RELB
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Immunodeficiency 53
Tags

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