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2.1
Immunodeficiency
Immunologic Deficiency Syndromes

Presentation

Primary immunodeficiencies are generally determined and can present early or at birth as opposed to acquired infections which present later. [pedclerk.bsd.uchicago.edu]

The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood. [orpha.net]

Clinically, CVID patients may present similarly to patients with XLA. Certain atypical XLA varieties with a delayed presentation are known to mimic CVID. [hindawi.com]

For example, severe T-cell or combined immune deficiencies typically present in infancy. However, some antibody deficiencies may present in older children or adults. [aaaai.org]

Presentation The most common presenting feature is frequent infections. [patient.info]

Skin

  • Eczema

    STAT3 mutation → decreased Th17 cells Defective neutrophil/macrophage chemotaxis Remember the acronym FATED Facies: coarse facial features Abscesses: mainly staphylococcal Teeth: retained primary teeth Hyper-IgE (eosinophilia) Dermatologic: severe eczema [amboss.com]

    Various skin manifestations may be apparent, such as rashes, vesicles, pyoderma, eczema and telangectasia. The eyes may be inflamed and infected. [patient.info]

    Board of Internal Medicine Internal Medicine, American Board of Internal Medicine Locations Boston: Allergy Associates Waltham: MGH Waltham Allergy Hesterberg, Paul E., MD Clinical Interests Food allergy Anaphylaxis Food sensitivity Immunodeficiency Eczema [massgeneral.org]

    Findings on Physical Examination Poor growth and chronically ill appearance Absence or decreased lymph tissue including tonsils Enlarged liver and spleen Thrush Skin changes including petechiae, telangectasia (ataxia telangectasia, abscesses (CGD), eczema [pedclerk.bsd.uchicago.edu]

    Wiskott–Aldrich syndrome (WAS) patients also present with eczema, autoimmune manifestations, recurrent bacterial infections and lymphoma. [en.wikipedia.org]

Workup

The blood workup with differential cell count is essential for all patients with suspected PID; it provides important information regarding suspected cytopenias (neutropenia, lymphopenia or thrombocytopenia) or qualitative alterations of cells, such as [scielo.br]

(suggestive of granuloma annulare). [11] Procedures Biopsy - Should be considered to exclude infection or malignancy in enlarging lymph nodes Bronchoscopy or endoscopy - Can provide information regarding specific lesions or infectious processes See Workup [emedicine.medscape.com]

Treatment

Primary Immunodeficiency Disease Treatment & Management Research in primary immunodefeciency is making great strides, improving treatment options and enhancing the quality of life for most people with these complex conditions. [aaaai.org]

[…] labor and short-term treatment of the infant after birth. [stanfordchildrens.org]

Etiology: autosomal recessive mutation in the MPO gene Clinical features Diagnosis Treatment No specific treatment or prophylaxis Treatment of fungal infections Severe congenital neutropenia Definition: A deficiency of neutrophils that occurs at or around [amboss.com]

Combined Immunodeficiency Treatment The goal of treating CID is to prevent your child from getting infections, which can become life-threatening. Enzyme-replacement therapy can treat certain types of CID. This treatment does not cure the disease. [chp.edu]

Top of page Is there effective treatment for SCID? The most effective treatment for SCID is transplantation of blood-forming stem cells from the bone marrow of a healthy person. [genome.gov]

Prognosis

Some conditions such as selective IgAD have a good prognosis. [patient.info]

Ig replacement therapy are infusions that can be either subcutaneous or intravenously administrated, resulting in higher Ig levels for about three to four weeks, although this varies with each patient.[10] Prognosis[edit] Prognosis depends greatly on [en.wikipedia.org]

Prognosis of HIV and AIDS How is HIV and AIDS treated? HIV and AIDS prevention References What is HIV and AIDS? HIV is a retrovirus that causes AIDS. HIV attacks the immune system. [myvmc.com]

Prognosis The prognosis is variable; many infants with DiGeorge syndrome die from overwhelming infection, seizures, or heart failure within the first year. [encyclopedia.com]

The prognosis in congenital immunodeficiency disorders is variable and depends on the specific disorder. [amboss.com]

Etiology

Overview Congenital B-cell immunodeficiencies Immunodeficiency Etiology Clinical features Diagnostic findings Bruton agammaglobulinemia X-linked recessive inheritance BTK gene defect → defective Bruton tyrosine kinase expressed in B cells → complete deficiency [amboss.com]

analysis anatomy and histology blood cerebrospinal fluid chemically induced classification complications congenital cytology diagnosis diagnostic imaging diet therapy drug effects drug therapy economics embryology enzymology epidemiology ethnology etiology [ncbi.nlm.nih.gov]

Then, progressing to modern time, to the immunological theory and finally the advent of genetics and their role in the etiology of TS. Key words: Tourette syndrome; tics; psychoanalysis; genes. [scielo.br]

Etiologic diagnosis can be made by examination of aqueous by use of polymerase chain reaction (PCR). [southsudanmedicaljournal.com]

Etiology The primary cause of common variable immunodeficiency (CVID) remains unknown despite 40 years of research. Part of the problem is the heterogeneity of the disease. Genetic factors may be involved. [emedicine.medscape.com]

Epidemiology

This ground-breaking journal brings together rigorously peer-reviewed articles, reviews of current research, results of clinical trials, and epidemiologic reports from around the world. [ovid.com]

Epidemiology: CD40 ligand deficiency is the most common form. [amboss.com]

During submission, authors are given the option to submit papers to one of the following tracks: Basic Science, Clinical Science, Translational Research, Epidemiology, Implementation Science, Prevention Research, and Critical Review. [journals.lww.com]

[…] builder options Subheadings: analysis anatomy and histology blood cerebrospinal fluid chemically induced classification complications congenital cytology diagnosis diagnostic imaging diet therapy drug effects drug therapy economics embryology enzymology epidemiology [ncbi.nlm.nih.gov]

Abstract In the absence of direct epidemiological evidence, molecular evolutionary studies of primate lentiviruses provide the most definitive information about the origins of human immunodeficiency virus (HIV)–1 and HIV–2. [rstb.royalsocietypublishing.org]

Pathophysiology

Internal Medicine (337) Paediatrics, Neonatology (298) Pathology and Forensic Medicine (289) Neurology (218) Physiology and Pathophysiology (174) Infectology (162) Surgery, Traumatology and Orthopaedics (158) Medical Chemistry and Biochemistry (121) Microbiology [portal.mefanet.cz]

However, intrinsic factors related to the pathophysiology of SLE are implicated in susceptibility to infection in patients with SLE. [tandfonline.com]

Autoimmunity in common variable immunodeficiency: Epidemiology, pathophysiology and management. Expert Rev Clin Immunol. 2017;13(2):101-115. [scielo.org.mx]

Diagnosis: CH50 assay screening test Treatment Meningococcal vaccine Prophylactic antibiotics C3 deficiency Definition: deficiency of the complement factor C3 and its cleaved fragments (e.g., C3b) Pathophysiology: decreased levels of the opsonin C3b → [amboss.com]

Pathophysiology In patients with common variable immunodeficiency (CVID), numerous immune-system abnormalities are reported, the most common of which is defective antibody formation. [emedicine.medscape.com]

Prevention

[…] defects, there's no way to prevent them. [mayoclinic.org]

Some of the disorders that can cause secondary immunodeficiency can be prevented and/or treated, thus helping prevent immunodeficiency from developing. [msdmanuals.com]

Besides medicines and therapies to help prevent infections, other precautions are used. Children with SCID: are placed in isolation to help prevent the spread of infection should not get live vaccines. [kidshealth.org]

Primary immunodeficiency disorders can be controlled and treated, but they can’t be prevented. Secondary disorders can be prevented in a number of ways. [healthline.com]

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