Immunodeficiency 8 C84.0

Immunodeficiency-8 (IMD8) is a primary immunodeficiency syndrome caused by a homozygous or heterozygous mutation in the CORO1A gene (605000) on chromosome 16p11.

Shiow et al (2009) reported on a 13-month-old girl with primary immunodeficiency (PID) characterized by recurrent infections, including candidiasis of the oral mucosa, of varicella infection after vaccination at 13 months of age. Labtory showed decreased numbers of lymphocytes, decreased T-cell function with decreased proliferative response and lack of helper T-cell function, and decreased levels of immunoglobulins. B and NK cells were normal. Proliferative response to mitogens was low, and specific antibody titers to tetanus and pneumococcal antigens were low to undetectable despite previous vaccinations. A thymus was present. Furthermore, the girl showed delayed psychomotor development and attention-deficit/hyperactivity disorder. Bone marrow transplantation was successful.

Moshous et al (2013) reported three siblings, from consanguineous parents of Moroccan descent, aged 12, 7.5, and 14 months, respectively, who developed aggressive Epstein-Barr virus (EBV)-associated B-cell lymphoproliferative disorder. The 14-month-old girl, suffered from recurrent upper and lower respiratory tract infections and diffuse lymphadenopathy associated with significant CD4+ lymphopenia during the first year of life. Lymph node biopsy was positive for EBV (diagnosis of EBV-induced lymphoproliferative B-cell syndrome). She was treated with chemotherapy but died of complications 4 months after bone marrow transplantation.

Some genetic disorders affecting T and NK cell function result in failure to control EBV infection, but do not result in increased susceptibility to other viral infections. These include mutations in the genes: SH2D1A, BIRC4, ITK, CD27, MAGT1, CORO1A LRBA (Cohen JI 2015).

1. Cohen JI (2015) Primary immunodeficiencies associated with EBV disease. Curr Top Microbiol Immunol 390:241-265.
2. Moshous D et al (2013) Whole-exome sequencing identifies coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation. J Allergy Clin Immun 131: 1594-1603.
3. Shiow LR et al (2009) Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a coronin-1A mutation and a chromosome 16p11.2 deletion. Clin Immun 131: 24-30.