Lyn kinase-associated Autoinflammatory Disease (LAID)

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Acronym:
LAID

SAID group:
Increased Immune Cell Receptor Signaling

Gene:
LYN

Inheritance:
Autosomal dominant.

Ethnicity:
Not noted.

Frequency:
Unknown-rare.

Timing of symptoms:
Symptoms present at birth, and continuous. [102]

Age of onset:
Symptoms may be present at birth or early infancy. [102]

Skin cutaneous:
Purpuric rash presenting at birth or in infancy. Vasculitis noted on skin biopsy. Periorbital erythema, and testicular swelling in one case. [102]

Neurologic:
Unknown [102]

Auditory:
Unknown [102]

Ophthalamic:
Periorbital erythema. [102]

Cardiopulmonary:
It is unknown, or not noted if there are any symptoms affecting the heart or lungs. Hydrops fetalis in one case. [102]

Abdominal:
Hepatomegaly, splenomegaly (hepatosplenomegaly). One case with testicular swelling. One case needing a splenectomy for refractory thrombocytopenia and the patient developed periportal lymphocytic infiltrates with a vanishing bile duct disorder. Hydrops fetalis in the same patient at birth. [102]

Lymphatic:
Splenomegaly. Splenectomy done for refractory thrombocytopenia in one case. [102]

Joints bones muscles cartilage:
Unknown [102]

Vasculitis:
Skin biopsy: vasculitis noted. [102]

Amyloidosis:
Not noted. [102]

Abnormal labs:
High: CRP, elevated liver enzymes, leukocytosis, anemia, thrombocytopenia (severe). Positive for autoantibodies, such as +ANA, anti-Sm, anti-SSA, antiphospholipids and anti-mitochondrial antibodies. [102]

Search Keywords:
Lyn kinase-associated Autoinflammatory Disease, LAID, LYN, Lyn kinase, tyrosine protein kinase, purpuric rash, rash, purpura, vasculitis, periorbital erythema, testicular swelling, hydrops fetalis, leukocytosis, anemia, thrombocytopenia, autoantibodies, splenomegaly, swollen testicles, enlarged spleen, large spleen, ANA, anti-Sm, anti-SSA, antiphospholipids, anti-mitochondrial antibodies, vanishing bile duct, periorbital, periorbital edema,


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