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]