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Autoimmune lymphoproliferative syndrome with recurrent infections
1 OMIM reference -
1 associated gene
92 connected diseases
No signs/symptoms info
Disease Type of connection
Autoimmune lymphoproliferative syndrome
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Early-onset autosomal dominant Alzheimer disease
Squamous cell carcinoma of head and neck
Behavioral variant of frontotemporal dementia
Progressive non-fluent aphasia
Semantic dementia
FADD-related immunodeficiency
Oculootodental syndrome
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Familial cortical myoclonus
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Complete androgen insensitivity syndrome
Familial hypospadias
Follicular lymphoma
Intravascular large B-cell lymphoma
Kennedy disease
Partial androgen insensitivity syndrome
Pseudohypoaldosteronism type 2E
Amyotrophic lateral sclerosis
Autosomal dominant hypohidrotic ectodermal dysplasia
Retinitis pigmentosa
Pulverulent cataract
Intrahepatic cholestasis of pregnancy
Distal 22q11.2 microdeletion syndrome
Intermittent hydrarthrosis
TRAPS syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
X-linked hypohidrotic ectodermal dysplasia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Bannayan-Riley-Ruvalcaba syndrome
Chronic mucocutaneous candidiasis
Cowden syndrome
Essential thrombocythemia
Familial pancreatic carcinoma
Fatal infantile hypertonic myofibrillar myopathy
Giant cell glioblastoma
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Li-Fraumeni syndrome
MALT lymphoma
Macrocephaly-autism syndrome
Papilloma of choroid plexus
Persistent polyclonal B-cell lymphocytosis
Posterior polar cataract
Precursor B-cell acute lymphoblastic leukemia
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Severe combined immunodeficiency due to CARD11 deficiency
X-linked lymphoproliferative disease
Zonular cataract
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Classical progressive supranuclear palsy
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial retinoblastoma
Hypohidrotic ectodermal dysplasia with immunodeficiency
Incontinentia pigmenti
Monosomy 13q14
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Spondylometaphyseal dysplasia - cone-rod dystrophy
Unilateral retinoblastoma
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Autosomal dominant nonsyndromic intellectual deficit
Autosomal recessive nonsyndromic intellectual deficit
Desmoid tumor
Familial gastric cancer
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Multiple endocrine neoplasia type 1
Multiple endocrine neoplasia type 4
Precursor T-cell acute lymphoblastic leukemia
- ALPS with recurrent infections

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare oncologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
CASP8 Q14790601763
No signs/symptoms info available.