Author: V. Dimov, M.D., Allergist/Immunologist and Assistant Professor at University of Chicago
Reviewer: S. Randhawa, M.D., Allergist/Immunologist and Assistant Professor at LSU (Shreveport) Department of Allergy and Immunology
The autosomal recessive form of human complete Stat-1 deficiency is a rare disorder. Stat-1 deficiency is associated with impaired cellular responses to both IFN-gamma and IFN-alpha/beta via Stat-1-containing complexes.
Two unrelated patients developed disseminated bacillus Calmette-Guérin (BCG) and subsequently died of viral illnesses. A third patient with complete Stat-1 deficiency and disseminated BCG infection, died 3 mo after bone marrow transplantation.
Stat-1 deficiency is a severe form of innate immunodeficiency. Stat-1 deficiency should be suspected in children with severe infections, notably but not exclusively patients with mycobacterial or viral diseases.
A deficiency in STAT 1 transcription factor can lead to increased susceptibility to which of the following infections?
(A) Herpes encephalitis
(B) Meningococcal meningitis
(C) Pneumococcal pneumonia
(D) Staphylococcal osteomyelitis
(E) Disseminated infection after BCG immunization
Correct answers: A and E
Human Complete Stat-1 Deficiency Is Associated with Defective Type I and II IFN Responses In Vitro but Immunity to Some Low Virulence Viruses In Vivo. Ariane Chapgier et al. The Journal of Immunology, 2006, 176: 5078-5083.