Notes in 10Immunodeficiencies

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Published	07/30/2024	Identify which stage of testing for Primary Immunodeficiency: {{c1::1::STAGE}}History and physical examination, height and weight CBC and di…
Published	07/30/2024	Identify which stage of testing for Primary Immunodeficiency: {{c1::2::STAGE}}Specific antibody responses (tetanus, diphtheria)Response to p…
Published	07/30/2024	Identify which stage of testing for Primary Immunodeficiency: {{c1::3::STAGE}}Candida and Tetanus skin tests Lymphocyte surface markers…
Published	07/30/2024	Identify which stage of testing for Primary Immunodeficiency: {{c1::4::STAGE}}Complement screening CH50, C3, C4 Enzyme measurements (Ad…
Published	07/30/2024	HIV primarily infects cells of the immune system: {{c1::CD4+ helper T Cells }}{{c1::Macrophages}}{{c1::Dendritic cells}}
Published	07/30/2024	An infectious HIV particle consists of {{c1::two::n}} {{c1::R}}NA strands within a protein coresurrounded by a {{c2::lipid envelope derived …
Published	07/30/2024	{{c1::gp120 (for 120-kD glycoprotein)}} is the major envelope glycoprotein of HIV  that binds to CD4 and to particular chemokine receptors on hum…
Published	07/30/2024	A DNA copy of the viral HIV RNA is synthesized by the viral {{c1::reverse transcriptase}} enzyme
Published	07/30/2024	HIV DNA integrates into the host cell’s DNA by the action of the {{c1::integrase}} enzymeThe integrated viral DNA is called a {{c2::provirus}}
Published	07/30/2024	Clinical Course of HIV Disease Time PeriodClinical CourseDescription {{c1::First 3 - 9 weeks}}Acute HIVThere is a spik…
Published	07/30/2024	Antibodies against {{c1::envelope glycoproteins, such as gp120}}, may be ineffective because the virus rapidly mutates the region of {{c2::gp120}…
Published	07/30/2024	Immune responses to HIV may paradoxically promote spread of the infection {{c1::T::T/F}}
Published	07/30/2024	A small fraction of patients control HIV infection {{c1::without::with/without}} therapy; these individuals are often referred to as {{c2::elite contr…
Published	07/30/2024	[HIV: Elite Controllers]Presence of certain {{c1::HLA alleles, such as HLA-B57 and HLA-B27}}, seems to be protective.These molecules are efficient at …
Published	07/30/2024	[HIV: Elite Controllers]32 base pair deletion in the {{c1::CCR5}} gene is a polymorphism in Northern Europeans Rare individuals with a homozygous…
Published	07/30/2024	Most common cause of secondary immunodeficiency is {{c1::malnutrition}}
Published	07/30/2024	Defects in {{c1::humoral::humoral/cellular}} immunity usually results in infection by encapsulated, pus-forming bacteria and some viruses
Published	07/30/2024	{{c1::Autoimmunity}} is seen when the incomplete loss of an immune function because of a hypomorphic mutation occurs, usually resulting in attenuation…
Published	07/30/2024	Ten Warning Signs of Primary Immunodeficiency{{c3::2}}/10 of these warrants consultation w/ an immunologist1. {{c1::Four}} or more new ear infections …
Published	07/30/2024	Features of Immunodeficiency Diseases FeatureB Cell DeficiencyT Cell Deficiency Susceptibility to infectionPyogenic &a…
Published	07/30/2024	The test for Delated-type Hypersensitivity reactions occur within {{c2::24-72 hours::time frame}}, called the {{c1::Candida Intradermal Test.}}
Published	07/30/2024	Mutation defects of {{c1::phagocytes}} leads to infections of the skin and respiratory tract with bacteria or fungi
Published	07/30/2024	Mutation defects in {{c1::TLR signaling}} may contribute to recurrent pyogenic infections
Published	07/30/2024	Leukocyte Adhesion Deficiencies are groups of {{c1::autosomal recessive::X-linked/autosomal recessive}} disorders
Published	07/30/2024	Chédiak-Higashi syndrome patients have mutations in {{c1::nuclear factor kB (NF-kB) transcription factor and MyD88::2 factors}}
Published	07/30/2024	NK Cell Deficiency caused by mutations in the genes for {{c1::GATA-2 and MCM-4 DNA helicase::2}} leads to recurrent infections of intracellular pathog…
Published	07/30/2024	Disorders manifesting as defects in both B and T cellarms of the adaptive immune system are termed as {{c1::Severe Combined Immunodeficiency (SCID)}}
Published	07/30/2024	SCID is caused by an underlying defect in {{c1::T}}-cell development/function
Published	07/30/2024	In SCID patients, {{c1::Varicella}} infections can progress to involve the lungs, liver (can lead to liver failure), and brain (encephalitis)
Published	07/30/2024	In SCID patients, {{c1::Cytomegalovirus}} infections may be reactivated and cause fatal pneumonia.
Published	07/30/2024	Children with SCID commonly develop GI infections often caused by: {{c1::Rotavirus, CMV, Protozoa cryptosporidium, Giardia lamblia::4}}
Published	07/30/2024	{{c1::Autosomal SCID due to ADA or PNP deficiency}} leads to accumulation of toxic metabolites in lymphocytes and can be caused by mutation defect of …
Published	07/30/2024	The most common cause of autosomal recessive SCID is{{c1::adenosine deaminase (ADA) enzyme deficiency}}
Published	07/30/2024	Immune deficiency is more frequently caused by mutations in {{c1::X-linked}} genes
Published	07/30/2024	Primary T Cell immunodeficiencies are diagnosed by:{{c1::Reduced numbers of peripheral blood T cellsLow proliferative responses of blood lymphocytesDe…
Published	07/30/2024	Can a defect in just 1 immunologic pathway will lead a patient susceptible to infections?{{c1::N::Y/N}}
Published	07/30/2024	Complete mutation defect of RAG1 or RAG2 leads to {{c1::Severe Combined Immunodeficiency (SCID)::disease}}
Published	07/30/2024	Hypomorphic mutation defect of RAG1 or RAG2 leads to {{c1::Omenn Syndrome::disease}}
Published	07/30/2024	Mutation defect of Toll-like receptor 3 (TLR3) leads to {{c1::HSV encephalitis::disease}}
Published	07/30/2024	Mutation defects of IL-{{c2::12}}, {{c2::IFN}}, and {{c2::Th1}} cell development leads to {{c1::susceptibility to intracellular pathogens (viruses and…
Published	07/30/2024	In Chronic Granulomatous Disease (CGD), granulomas are formed because of {{c1::T-cells}}  activating macrophages to eliminate the microbes
Published	07/30/2024	X-linked SCID only affects {{c1::m::m/fem}}ales
Published	07/30/2024	{{c1::X-linked SCID}} is caused by mutations in the gene encoding the {{c2::common 𝛄 (𝛄c or IL-2R𝛄) chain}} which reduces the ability of {{c3::pr…
Published	07/30/2024	In SCID due to ADA deficiency, {{c1::Both T and B::T or Both T and B}} cells are decreasedIn SCID due to PNP deficiency, {{c1::T::T or Both T and B}} …
Published	07/30/2024	Autosomal recessive SCID may be caused by {{c1::RAG1/RAG2}} mutation which causes failure of the cleavage step during V(D)J recombination
Published	07/30/2024	Autosomal recessive SCID may be caused by {{c1::Artemis}} mutation which causes failure to resolve the coding-end hairpin during V(D)J recombination
Published	07/30/2024	{{c1::DiGeorge Syndrome::SCID}} is a defect in T-cell maturation from a deletion on chromosome 22 that interferes with development of the 3rd and 4th …
Published	07/30/2024	The most common B-cell maturation block syndrome is {{c1::X-linked agammaglobulinemia (XLA)}} where there is a mutation in the gene for Brut…
Published	07/30/2024	Ig heavy chain deficiencies where IgG1, IgG2, IgG4 and sometimes IgA and IgE are absent is caused by a chromosomal deletion at {{c1::14q32}}
Published	07/30/2024	{{c1::Selective Ig isotype deficiency}} where there is reduced or no production of selective Ig isotypes is common and may or may not cause any clinic…
Published	07/30/2024	{{c1::Selective IgA deficiency}} is caused by mutations in {{c2::TACI}} and is the most common isotype defect with patients having increased susc…
Published	07/30/2024	{{c1::Common Variable Immunodeficiency (CVID)}} is caused by mutations in {{c2::B cell growth factors, TACI and ICOS::3}} and is the most common …
Published	07/30/2024	In Common Variable Immunodeficiency (CVID),Mature B cells are {{c1::normal::quantity}}Memory B cells are {{c1::reduced}}Plasma cells are {{c1::absent}…
Published	07/30/2024	{{c2::ICF syndrome}} manifests with hypogammaglobinemia and occasional mild T cell defects due to mutations in {{c1::DNMT3B}}
Published	07/30/2024	{{c1::X-linked hyper-IgM syndrome}} is caused by a defect in the gene for {{c2::CD40L}} causing defective B-cell isotype switching, affinity maturatio…
Published	07/30/2024	{{c1::Wiskott-Aldrich syndrome (WAS) or Autosomal recessive WAS-like disease}} manifests with defective T cell activation and leukocyte mobi…
Published	07/30/2024	{{c1::Hyper-IgE syndromes}} manifests with defective Th17 and ILC3Mutations in {{c2::STAT3}} manifest with Autosomal dominant hyper-IgE synd…
Published	07/30/2024	{{c1::X-linked lymphoproliferative (XLP) syndrome}} manifests with uncontrolled EBV-induced B cell proliferation and uncontrolled macrophage and CTL a…
Published	07/30/2024	{{c1::Hemophagocytic lymphohistiocytosis (HLH) syndrome}} manifests with excessive macrophage activation and IFNγ production due to mutations def…
Published	07/30/2024	{{c1::Bare lymphocyte syndrome}} manifests as the lack of class II MHC expression
Published	07/30/2024	{{c1::Ataxia-telangiectasia}} is characterized with gait abnormalities, vascular malformations and immunodeficiencies because of mutations in the gene…
Published	07/30/2024	In CGD, most common infections include: {{c1::Catalase-producing bacteria}} & {{c1::Aspergillus and Candida sp. of fungi::2 fungi}}
Published	07/30/2024	CTLs are often ineffective in killing infected cells because the virus inhibits the expression of class {{c1::I::I/II}} MHC molecules by the infected …
Published	07/30/2024	Autosomal recessive SCID due to {{c1::Purine Nucleotide Phosphorylase (PNP) deficiency}} has features such as deafness, costochondrol abnormalities, l…
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