Defects in intrinsic and innate immunity [134 genes]

Defects in innate and intrinsic immunity are produced by gene alterations controlling the development, structure, or function of innate immune-related components and cells. Innate immunity is the first line of defense against pathogens, and its alteration results in a varied group of clinical conditions characterized predominantly by increased susceptibility to microbes.

• Unknown
• ~1,5% of reported PIDs

• Diagnosis and genetic counseling
• Hematopoietic stem cell transplantation (HSCT)
• Recombinant cytokines
• Antimicrobials (treatment and prophylaxis)

Identifying a genetic defect responsible for the disease would allow a precise molecular diagnosis to be issued and make it possible to provide genetic counseling to the patient and their family members. In some cases, detecting a genetic variant can help explore specific treatment options.

Susceptibility to microorganisms without apparent alterations in cellular and humoral immunity may be caused by defects in the genes that encode interferons, Toll-like receptors, NOD-like receptors, and genes involved in the Th1 and Th17 signaling pathways, among others innate immune signaling pathways. Given a suspicion of this type, the exploration of genes related to the innate immune response would be indicated.

• Severe, recurrent and invasive microbial infections
• Onset: childhood and adulthood