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Severe combined immunodeficiency due to LCK deficiency
1 associated gene
105 connected diseases
No signs/symptoms info
Disease Type of connection
Juvenile rheumatoid factor-negative polyarthritis
Oligoarticular juvenile arthritis
Autoimmune lymphoproliferative syndrome
Autosomal agammaglobulinemia
Noonan syndrome
Granulomatosis with polyangiitis
T-B+ severe combined immunodeficiency due to CD3delta / CD3epsilon / CD3zeta
Juvenile myelomonocytic leukemia
LEOPARD syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Common variable immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Combined immunodeficiency due to ZAP70 deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Acute myeloblastic leukemia with maturation
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Aleukemic mast cell leukemia
Bullous diffuse cutaneous mastocytosis
Classic mast cell leukemia
Cone rod dystrophy
Cutaneous mastocytoma
Gastrointestinal stromal tumor
Idiopathic CD4 lymphocytopenia
Isolated bone marrow mastocytosis
Lymphoadenopathic mastocytosis with eosinophilia
Nodular urticaria pigmentosa
Piebaldism
Plaque-form urticaria pigmentosa
Pseudoxanthomatous diffuse cutaneous mastocytosis
Smouldering systemic mastocytosis
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
Telangiectasia macularis eruptiva perstans
Typical urticaria pigmentosa
SHORT syndrome
Amyotrophic lateral sclerosis
Giant cell arteritis
Pediatric systemic lupus erythematosus
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Distal 22q11.2 microdeletion syndrome
Pilocytic astrocytoma
Wiskott-Aldrich syndrome
X-linked severe congenital neutropenia
X-linked thrombocytopenia with normal platelets
Capillary malformation - arteriovenous malformation
Parkes Weber syndrome
Angelman syndrome
Glucocorticoid resistance
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant brachyolmia
Autosomal dominant congenital benign spinal muscular atrophy
Familial digital arthropathy-brachydactyly
Metatropic dysplasia
Parastremmatic dwarfism
Spondyloepiphyseal dysplasia, Maroteaux type
Spondylometaphyseal dysplasia, Kozlowski type
Complete androgen insensitivity syndrome
Familial hypospadias
Familial papillary renal cell carcinoma
Hepatocellular carcinoma, childhood-onset
Kennedy disease
Partial androgen insensitivity syndrome
Reticulate acropigmentation of Kitamura
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Charcot-Marie-Tooth disease type 2B2
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Incontinentia pigmenti
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
Chronic mucocutaneous candidiasis
Giant cell glioblastoma
Gliosarcoma
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Autosomal recessive lymphoproliferative disease
T-B+ severe combined immunodeficiency due to JAK3 deficiency
X-linked lymphoproliferative disease
Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation
PLCG2-associated antibody deficiency and immune dysregulation
Autosomal dominant hyper-IgE syndrome
Cherubism
Congenital pulmonary alveolar proteinosis
Metachondromatosis
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Estrogen resistance syndrome
Monosomy 5p
Atypical chronic myeloid leukemia
Autosomal recessive systemic lupus erythematosus
Chronic neutrophilic leukemia
Hereditary neutrophilia
Hereditary gingival fibromatosis
Synonym(s):
- SCID due to LCK deficiency
- SCID due to lymphocyte-specific protein tyrosine kinase deficiency
- Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune 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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
LCK P06239153390
No signs/symptoms info available.