PanelApp
  1. Panels
  2. Autoimmune Lymphoproliferative Syndrome
Description
This panel has been compiled based on the following study:

Genetic Testing in Patients with Autoimmune Lymphoproliferative Syndrome: Experience of 802 Patients at Cincinnati Children’s Hospital Medical Center (PMID: 39060684)
Panel Activity

3 reviewers

  • Zornitza Stark (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Peter McNaughton (Queensland Children's Hospital)

20 Entities

20 reviewed, 19 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
ADA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome MIM#615688
Tags
Green Green List (high evidence)
CASP10
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type II MIM#603909
Tags
Green Green List (high evidence)
CASP8
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
Green Green List (high evidence)
CTLA4
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation MIM#616100
  • autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0014493
Tags
Green Green List (high evidence)
FADD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • FADD-related immunodeficiency MONDO:0013408
Tags
Green Green List (high evidence)
FAS
1 review
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IA MIM#601859
Tags
Green Green List (high evidence)
FASLG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IB MIM#601859
Tags
Green Green List (high evidence)
IKZF1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 13 MIM# 616873
  • recurrent bacterial respiratory infections
  • Thrombocytopaenia
  • immunodeficiency
  • Hypogammaglobulinaemia
  • decrease B-cells
  • decrease B-cell differentiation
  • decrease memory B/T cells
  • Low Ig
  • pneumocystis early CID onset
  • Immune dysregulation
Tags
Green Green List (high evidence)
ITK
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Lymphoproliferative syndrome 1 MIM#613011
Tags
Green Green List (high evidence)
KRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • RAS-associated autoimmune leukoproliferative disorder MIM#614470
Tags
Green Green List (high evidence)
LRBA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 8, with autoimmunity MIM#614700
Tags
Green Green List (high evidence)
MAGT1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia MIM#300853
Tags
Green Green List (high evidence)
NFKB1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 12 MIM# 616576
Tags
Green Green List (high evidence)
NFKB2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency, common variable, 10 MIM# 615577
Tags
Green Green List (high evidence)
NRAS
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • autoimmune lymphoproliferative syndrome type 4 MONDO:0013767
Tags
Green Green List (high evidence)
PIK3CD
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 14B, autosomal recessive, MIM# 619281
  • Immunodeficiency 14A, autosomal dominant, MIM# 615513
Tags
Green Green List (high evidence)
PIK3R1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Immunodeficiency 36, MIM# 616005
Tags
Green Green List (high evidence)
PRKCD
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type III MIM#615559
Tags
Green Green List (high evidence)
STAT3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 1 MIM#615952
  • STAT3-related early-onset multisystem autoimmune disease MONDO:0014414
Tags
Amber Amber List (moderate evidence)
RASGRP1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 64 MIM#618534
Tags

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