severe combined immunodeficiency due to LCK deficiency
MONDO:0014334Mondo
Findings
No curated finding names severe combined immunodeficiency due to LCK deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AbscessHPOHP:0025615
- 1 of 1 reported patient
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AscitesHPOHP:0001541
- 1 of 1 reported patient
- AutoimmunityHPOHP:0002960
- 1 of 1 reported patient
- Capillary leakHPOHP:0030005
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased circulating IgE concentrationHPOHP:0005479
- 1 of 1 reported patient
- Decreased circulating IgG concentrationHPOHP:0004315
- 1 of 1 reported patient
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 2 of 2 reported patients
Show the remaining 10
- FeverHPOHP:0001945
- 1 of 1 reported patient
- ImmunodeficiencyHPOHP:0002721
- 1 of 1 reported patient
- PanniculitisHPOHP:0012490
- 1 of 1 reported patient
- PericarditisHPOHP:0001701
- 1 of 1 reported patient
- Protracted diarrheaHPOHP:0004385
- 1 of 1 reported patient
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LCKHGNC:6524
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
4 names
Resolves to: severe combined immunodeficiency due to LCK deficiency
- Also called
- immunodeficiency type 22SCID due to LCK deficiencySCID due to lymphocyte-specific protein tyrosine kinase deficiencysevere combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency