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)

1 reviewer

  • Ain Roesley (Victorian Clinical Genetics Services)

15 Entities

15 reviewed, 13 green

List Entity Reviews Mode of inheritance Details
15 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)
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)
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)
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)
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)
CASP8
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Autoimmune lymphoproliferative syndrome, type IIB MIM#607271
Tags
Amber Amber List (moderate evidence)
RASGRP1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Immunodeficiency 64 MIM#618534
Tags

Major version comments

Downloads

Download lists

Download Version