Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

08:00 EDT 10th June 2019 | BioPortfolio

Summary of "Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations."

This study reports a patient with severe skin disease in the context of profound immunodeficiency explained by two concomitant genetic diseases caused by two novel homozygous loss-of-function mutations in PLEC1 and CARMIL2. The work provides additional information on the clinical and immunological manifestations of CARMIL2 deficiency and highlights the particular diagnostic and therapeutic challenge represented by the concomitant presence of two rare monogenic disorders.


Journal Details

This article was published in the following journal.

Name: Clinical immunology (Orlando, Fla.)
ISSN: 1521-7035


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Medical and Biotech [MESH] Definitions

Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.

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Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. It is inherited as an X-linked or autosomal recessive defect. Mutations occurring in many different genes cause human Severe Combined Immunodeficiency (SCID).

Species of the genus LENTIVIRUS, subgenus primate immunodeficiency viruses (IMMUNODEFICIENCY VIRUSES, PRIMATE), that induces acquired immunodeficiency syndrome in monkeys and apes (SAIDS). The genetic organization of SIV is virtually identical to HIV.

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