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SH3BP2 deficienc with multilocular cysticy disease of the mandibles

sh3bp2_deficienc_with_multilocular_cysticy_disease_of_the_mandibles

Systematic

Autoinflammatory disease
Autoinflammation with arthritis and dyskeratosis
Autoinflammation, antibody deficiency, and immune dysregulation syndrome
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
CARD14 associated psoriasis
Chronic recurrent multifocal osteomyelitis
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
F12
Familial cold autoinflammatory syndromes
Hereditary pediatric Behçet-like disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Inflammatory bowel disease
Interleukin 10 deficiency
Interleukin 10 receptor deficiency
Interleukin-1 receptor antagonist deficiency
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Proteasome-associated autoinflammatory syndrome
Pseudo-TORCH-Syndrom
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
SH3BP2 deficienc with multilocular cysticy disease of the mandibles
Central giant cell lesion
SH3BP2
Cherubism
SH3BP2
Familial multilocular cystic disease of the jaws
SH3BP2
STING-associated vasculopathy with onset in infancy
Singleton-Merten syndrome
Susceptibility to malignant hyperthermia 5
Susceptibility to rheumatoid arthritis
Systemic autoinflammatory disease
Systemic-onset juvenile idiopathic arthritis
TNF receptor-associated periodic syndrome

References:

1.

Bell SM et al. (1997) Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.

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2.

Ueki Y et al. (2001) Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

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3.

Lo B et al. (2003) Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.

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4.

Ueki Y et al. (2007) Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice.

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Update: Aug. 14, 2020
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