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تسجيل

Combined Immunodeficiencies with Osseous Dysplasia

المؤلف:  Hoffman, R., Benz, E. J., Silberstein, L. E., Heslop, H., Weitz, J., & Salama, M. E.

المصدر:  Hematology : Basic Principles and Practice

الجزء والصفحة:  8th E , P743

2026-08-01

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Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder characterized by short-limbed dwarfism, hair abnormalities, increased risk of bone marrow dysplasia, malignancies and Hirschsprung dis ease, and a variable degree of immunodeficiency. The majority of patients show susceptibility to bacterial and viral infections; however, some may present with SCID, Omenn syndrome, or selective deficiency of CD8+ cells. The disease is more common among certain nationalities and communities (the Amish populations and the Finns), and is caused by mutations of the gene encoding for the untranslated RNA component of the ribonuclease mitochondrial RNA processing (RMRP) complex, which is involved in cleavage of ribosomal RNA, processing of mitochondrial RNA, and cell cycle control. Management of the immunologic problems in CHH depends on their severity. SCT may be indicated in cases with severe T lymphocyte defects.

Schimke immunoosseous dysplasia is an autosomal recessive disorder that also combines immunologic and skeletal abnormalities. These children have short stature, skeletal dysplasia, renal dysfunction and T-cell immunodeficiency caused by mutations in the SMARCAL1 gene.

Autosomal recessive EXTL3 deficiency due defects of heparan sulfate biosynthesis causes severe T-cell lymphopenia, short stature, cervical spine stenosis and neurodevelopmental delay.

المزيد