A new report of autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) with a homozygous pattern from Iran
| Autor: | Alireza Khabbazi, Hossein Daghagh, Maryam Nasiri Aghdam, Yousef Daneshmandpour, Haniyeh Rahbar Kafshboran, Ebrahim Sakhinia, Jafar Nouri Nojadeh, Hamid Hamzeiy, Mina Kazemzadeh |
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| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
myalgia Immunology Familial Mediterranean fever Autoimmunity Iran medicine.disease_cause Consanguinity 03 medical and health sciences 0302 clinical medicine Exome Sequencing medicine Humans Immunology and Allergy Rheumatoid factor Genetic Predisposition to Disease Amino Acid Sequence Child Genetic Association Studies Exome sequencing Base Sequence biology Phospholipase C gamma business.industry Hereditary Autoinflammatory Diseases Homozygote Computational Biology Sequence Analysis DNA Hepatitis C Hepatitis B Immune dysregulation medicine.disease Pedigree 030104 developmental biology Antibody Formation Mutation biology.protein Female Antibody medicine.symptom business 030215 immunology |
| Zdroj: | Immunology Letters. 221:27-32 |
| ISSN: | 0165-2478 |
| Popis: | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is an autosomal dominant autoinflammatory disease characterized by episodic skin, musculoskeletal, ophthalmic and gastrointestinal tract symptoms. Here we report an 11-year-old girl with a history of repeated episodes of fever, myalgia, arthralgia, abdominal pain, and urticarial rash in the trunk and limbs. Chest and pelvic X-Ray, sacroiliac joints MRI, brain MRI and abdominal CT scan were normal. Anti-nuclear antibody, Rheumatoid factor, cryoglobulin, ANCA/PR3, p-ANCA/MPO, anti-smooth muscle antibody and anti-mitochondrial antibody were negative. Serology for cytomegalovirus, Epstein-Barr, hepatitis B, hepatitis C, and HIV viruses was negative. Serum immunoglobulins were in the normal range. Genetic analysis for familial Mediterranean fever syndrome was negative. Whole exome sequencing was carried out to identify the genetic cause of our patient. We identified a homozygous missense variant (c.579C > G, p. His193Gln) in exon 7 of the PLCG2 gene. Bioinformatic analysis and clinical symptoms suggests this variant to be pathogenic in the homozygous state for APLAID and thus probably acting in an autosomal recessive manner. Our bioinformatic analysis also showed this novel mutation to have detrimental effects on the 3D structure of the PLCG2 protein, which is well conserved among many other similar species. |
| Databáze: | OpenAIRE |
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