GM28267
LCL from B-Lymphocyte
Description:
BLAU SYNDROME; BLAUS
NUCLEOTIDE-BINDING OLIGOMERIZATION DOMAIN PROTEIN 2; NOD2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
PIGI Consented Sample |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Ethnicity
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Not Hispanic/Latino
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Ethnicity
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Danish and German
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Country of Origin
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DENMARK
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Family Member
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1
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Family History
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N
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Gene |
NOD2 |
| Chromosomal Location |
16q12.1 |
| Allelic Variant 1 |
605956.4; BLAU SYNDROME; BLAUS |
| Identified Mutation |
c.1001G>A (p.R334Q) |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
7 MO |
| Age at Diagnosis(If not a control) |
17 MO |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
DENMARK |
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| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
NOD2, C.1001G>A (P.R334Q) |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
7 MONTHS |
| Age at Diagnosis: |
17 MONTHS |
| In Utero History Information |
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| Birth History Information |
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Failure to thrive
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| Dysmorphic Features |
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| Neurological Symptoms |
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| Optical and Audiological Symptoms |
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| Additional Information: |
UVEITIS |
| Musculoskeletal Symptoms |
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| Additional Information: |
ARTHRITIS |
| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Additional Information: |
EPISODES OF UNEXPLAINED FEVER |
| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Uncategorized Symptoms: |
SKIN LESIONS. GENERALIZED GRANULOMATOUS EXANTHEMA. |
| Testing Performed |
| Treatments and Assistive Devices |
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| Medications |
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GROUP II/III STEROID CREAM, FLUOROMETHOLONE, NON-STEROIDAL ANTI-INFLAMMATORY DRUGS, INTRA-ARTICULAR CORTICOSTEROID INJECTIONS, METHOTREXATE, INFLIXIMAB, ADALIMUMAB, CANAKINUMAB, PREDNISONE, EYE DROPS. |
| Family History |
| Remarks |
Clinically affected. Arthritis, uveitis and occasionally skin lesions. Symptoms began with granulomatous dermatitis at 7 months. The triad of Blau syndrome (granulomatous arthritis, uveitis, and dermatitis) developed at 17 months. |
| Arvesen KB, Herlin T, Larsen DA, Koppelhus U, Ramsing M, Skytte AB, Sommerlund M, Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant Acta dermato-venereologica97:126-127 2016 |
| PubMed ID: 27304707 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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