Overview of Immunodeficiency Disorders

Abstract

Synopsis The spectrum of primary immunodeficiency disorders (PID) is expanding. It includes typical disorders that primarily present with defective immunity as well as disorders that predominantly involve other systems and exhibit few features of impaired immunity. The rapidly growing list of new immunodeficiency disorders and treatment modalities makes it imperative for the provider to stay abreast of the latest and best management strategies. We present a brief overview of recent clinical advances in the field of PIDs.

Atypical severe progressive perioral ulceration due to herpes simplex virus on the background of undiagnosed HIV/AIDS

“…7 Fatal systemic infections due to disseminated infection without orofacial or genital lesions are possible in the immunocompromised population, 3 with recurrent severe HSV-1 infections a major cause of morbidity and mortality in immunocompromised patients prior to the availability of current antiviral therapies. 2 Cellular immunodeficiencies that are associated with atypical HSV manifestations include the following: primary congenital cellular immunodeficiencies, 8 acute and chronic leukaemias, 6 Good syndrome, 9 iatrogenic immunosuppression of autoimmune conditions, 7 organ transplant recipients 6 and also through chemotherapy treatment of malignancy 6 as well as AIDS. 1 The punched out peripheral monomorphic papulovesicles and location on the lateral lip commissure provided clinical clues towards a diagnosis of an atypical HSV infection.…”

Primary Immunodeficiency

“…Treatments for PIDs involve preventing and controlling recurrent infections, treating symptoms, strengthening the immunity, and treating the underlying cause of the immune defects. Illness associated with PIDs such as autoimmune disorders or malignancies should also be managed [1,13].…”

“…Renfen Chen Central Sydney Immunology Laboratory, Royal Prince Alfred Hospital, NSW Health Pathology, Camperdown, NSW, Australia *Address all correspondence to: ren.chen@health.nsw.gov.au and most of them have alike clinical presentations with common diseases; immunodeficiencies derived from multiple gene defects can share similar symptoms, and a defect in the same gene may have various clinical manifestations [1]. While severe forms of PIDs are relatively easier to be recognized, milder immunodeficiencies may not raise alertness until typical presentation occurs [68,69].…”

“…Primary immunodeficiency (PID) is a large group of rare diseases attributed to inborn genetic errors that impair different components of adaptive and innate immune system, resulting in chronic, serious infections, or other complications. The diseases are often accompanied by a predisposition to autoimmune disorders, autoinflammation, atopy, and malignancy [1][2][3][4]. Unlike secondary immunodeficiency acquired from other diseases or conditions such as malnutrition, immunosuppression, or HIV infections, PIDs are triggered by genetic defects.…”

“…Unlike secondary immunodeficiency acquired from other diseases or conditions such as malnutrition, immunosuppression, or HIV infections, PIDs are triggered by genetic defects. Based on the abnormality of one or more components of human immunity, PIDs can be divided into antibody deficiencies, combined T-and B-cell deficiencies, deficiencies in the phagocytic or complement system, and immune dysregulation [1]. Diagnosis of these disorders requires good clinical awareness and specialized laboratory testing.…”