Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0024141 (
systemic lupus erythematosus
)
44,322
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Dedicator of cytokinesis 8
(
DOCK8
) deficiency is an innate error of adaptive immunity characterized by recurrent infections with viruses, bacteria, and fungi, typically high serum levels of immunoglobulin E, eosinophilia, and a progressive deterioration of T- and B-cell-mediated immunity.
DOCK8
mutations are the second most common cause of hyper-immunoglobulin E syndromes (HIES). We report a case of
DOCK8
deficiency associated with
systemic lupus erythematosus
(
SLE
). Association of
SLE
with HIES is very rare; to our knowledge, this is the sixth such case reported in the literature. A 10-year-old girl of consanguineous parents was followed in our clinic because of HIES since early childhood. She developed
SLE
with purpuric and necrotic skin lesions, diffuse arthritis, and glomerulonephritis. These autoimmune features were corroborated by the presence of antinuclear, anti-DNA, and antiphospholipid antibodies. The combination of HIES and autoimmunity makes treatment difficult, because the use of immunosuppressive drugs needed for
SLE
may worsen existing symptoms caused by the immunodeficiency. Our observation is the first case of association of
SLE
with HIES in the literature where the primary immune disease is genetically documented and labeled as
DOCK8
deficiency.
...
PMID:Ten-year follow-up of a DOCK8-deficient child with features of systemic lupus erythematosus. 2533 98
