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GTR Home > Conditions/Phenotypes > Cernunnos-XLF deficiency

Cernunnos-XLF deficiency

Synonyms
IMMUNODEFICIENCY 124, SEVERE COMBINED; NHEJ1 SYNDROME; SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH MICROCEPHALY, GROWTH RETARDATION, AND SENSITIVITY TO IONIZING RADIATION; SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, and sensitivity to ionizing radiation due to NHEJ1 deficiency; Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Immunodeficiency-124 (IMD124) is an autosomal recessive form of T-/B-/NK+ severe combined immunodeficiency (SCID) characterized by the onset of recurrent infections in infancy or early childhood. Laboratory studies show T- and B-cell lymphopenia, hypogammaglobulinemia with increased IgM, and normal NK cells, usually with progression to bone marrow aplasia and pancytopenia. Many patients have autoimmune cytopenias, such as hemolytic anemia or thrombocytopenia. Affected individuals also have poor growth with microcephaly and may have characteristic dysmorphic facial features. Patient-derived cells show increased sensitivity to ionizing radiation and shortened telomeres associated with premature senescence of hematopoietic stem cells (summary by Carrillo et al., 2017 and El Hawary et al., 2023). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive SCID, see 601457. [from OMIM]

Available tests

40 tests are in the database for this condition.

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Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: IMD124, MCOPCB13, XLF, NHEJ1
    Summary: non-homologous end joining factor 1

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