Notes in 05 Inherited Immune Deficiencies

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Published	01/06/2024	{{c2::Chronic granulomatous}} disease is characterized by recurrent infection and granuloma formation with {{c1::catalase}}-positive organisms
Published	01/06/2024	Which immunodeficiency presents with recurrent infection, failure to thrive, chronic diarrhea, and thrush? {{c1::Severe combined immunodeficiency (SCI…
Published	01/06/2024	What treatment for SCID is curative?{{c1::Bone marrow transplant}}
Published	01/06/2024	What type of vaccine should be avoided in patients with SCID?{{c1::Live vaccines}}
Published	01/06/2024	Which immunodeficiency is characterized by decreased T-cell receptor excision circles (TRECs)? {{c1::Severe combined immunodeficiency (SCID)}}
Published	01/06/2024	SCID is characterized by an absent {{c1::thymic shadow}} on CXR
Published	01/06/2024	SCID is characterized by absent {{c1::germinal centers}} on lymph node biopsy
Published	01/06/2024	SCID is characterized by absent {{c1::T cells}} on flow cytometry
Published	01/06/2024	When does common variable immunodeficiency typically present? {{c1::After age 2}}
Published	01/06/2024	Common variable immunodeficiency is associated with increased risk for {{c1::autoimmune}} disease and {{c2::lymphoma}}
Published	01/06/2024	What is the most common primary immunodeficiency? {{c1::Selective IgA deficiency}}
Published	01/06/2024	What parasitic infection are patients with IgA deficiency susceptible to? {{c1::Giardia}}
Published	01/06/2024	{{c2::Wiskott-Aldrich}} syndrome is due to a mutation in the {{c1::WASp}} gene
Published	01/06/2024	What is the mode of inheritance of Wiskott-Aldrich syndrome? {{c1::X-linked recessive}}
Published	01/06/2024	Wiskott-Aldrich syndrome is characterized by inability for leukocytes and platelets to reorganize their {{c1::actin}} cytoskeleton
Published	01/06/2024	What classes of immunoglobulin are normal or decreased in Wiskott-Aldrich syndrome? {{c1::IgG and IgM}}
Published	01/06/2024	What classes of immunoglobulin are increased in Wiskott-Aldrich syndrome? {{c1::IgA and IgE}}
Published	01/06/2024	The symptoms of Wiskott-Aldrich syndrome may be remembered with the mnemonic "WATER": W: WiskottA: Aldrich T: {{c1::Thrombocytopenia (fewer and smalle…
Published	01/06/2024	What is the major cause of death in patients with Wiskott-Aldrich syndrome? {{c1::Bleeding}}
Published	01/06/2024	Wiskott-Aldrich syndrome is associated with increased risk for autoimmune disease and {{c1::malignancy}}
Published	01/06/2024	IPEX syndrome is due to a genetic deficiency of {{c1::FOXP3}}
Published	01/06/2024	What is the mode of inheritance of IPEX syndrome? {{c1::X-linked}}
Published	01/06/2024	IPEX syndrome is associated with diabetes in {{c1::male::gender}} infants
Published	01/06/2024	Recombinant IFN-y can be used to treat {{c1::Chronic Granulomatous Disease}}
Published	01/06/2024	SCID is characterized by absent {{c1::T}} cells and dysfunctional {{c1::B}} cells
Published	01/06/2024	Which immunodeficiency is characterized by no B-cell differentiation and decreased immunoglobulins of all classes? {{c1::Common variable immunodeficie…
Published	01/06/2024	What is the recommended management for patients with common variable immunodeficiency (CVID)?{{c1::IV immunoglobulins}}
Published	01/06/2024	IPEX syndrome is associated with a variety of dermatological findings, but in particular patients present with dermatitis, nail {{c1::dystrophy}}, and…
Published	01/06/2024	What is the definitive treatment for Chronic Granulomatous Disease?{{c1::Bone marrow transplant}}
Published	01/06/2024	Infant with no thymus or tonsils = {{c1::SCID::immunodeficiency}}
Published	01/06/2024	{{c2::Chronic granulomatous}} disease is characterized by recurrent infection and granuloma formation with {{c1::catalase}}-positive organisms
Published	01/06/2024	What test is used to diagnose common variable immunodeficiency (CVID)? {{c1::Quantitative measurement of serum immunoglobulins}}
Published	01/06/2024	Neutrophils filled with staph aureus is suggestive of {{c1::CGD::diagnosis}}
Published	01/06/2024	What are the B/T cell counts in CGD?{{c1::Normal}}
Published	01/06/2024	{{c1::Severe combined immunodeficiency (SCID)::Condition}} involves defective IL-2R or ADA deficiency resulting in ↓↓ T cell and B cell maturation
Published	01/06/2024	Chronic granulomatous disease (CGD) can present with granulomas (may contain multinucleated giant cells) in {{c1::any organs::which organ(s)…
Published	01/06/2024	What is the likely diagnosis in an infant that presents with failure to thrive, absent lymph nodes, and leukopenia with a history of Pneumocystis jiro…
Published	01/06/2024	{{c1::Staphylococcus aureus}} susceptibility is pathognomonic for {{c2::neutrophil}} defects
Published	01/06/2024	In congenital neutropenia, neutrophil count is low but {{c1::monocyte}} count may be high to compensate
Published	01/06/2024	SCID presents with {{c1::opportunistic::opportunistic vs typical}} infections
Published	01/06/2024	Wiskott-Aldrich syndrome presents with {{c1::opportunistic::opportunistic vs typical}} infections
Published	01/06/2024	X-linked agammaglobulinemia presents with {{c1::typical::opportunistic vs typical}} infections
Published	01/06/2024	In SCID, {{c1::B cells}} are present, but they cannot produce {{c1::antibodies}} because they can't be activated by T cells
Published	01/06/2024	Which primary immunodeficiency is now included in the newborn screen?{{c1::SCID}}
Published	01/06/2024	Which primary immunodeficiency is associated with enteropathy and often causes death by malnutrition?{{c1::IPEX syndrome}}
Published	01/06/2024	IPEX (Treg deficiency) is caused by loss of {{c1::peripheral}} tolerance, while APECED (AIRE deficiency) is caused by loss of {{c1::central}…
Published	01/06/2024	What is the definitive treatment for IPEX syndrome?{{c1::Bone marrow transplant}}
Published	01/06/2024	Chronic granulomatous disease is a defect affecting {{c1::neutrophils::component of immune system}}
Published	01/06/2024	Which immunodeficiency is associated with gingivitis?{{c1::Congenital neutropenia}}
Published	01/06/2024	What types of pathogens affect people with neutropenia?{{c1::Bacterial and fungal (but not viral)}}
Published	01/06/2024	Chemotherapy-associated neutropenia can be reduced by administration of {{c1::G-CSF}}
Published	01/06/2024	Because patients with chronic granulomatous disease cannot effectively clear catalase-positive infections, these infections often lead to {{c1::h…
Published	01/06/2024	Chronic Granulomatous Disease presents with {{c1::opportunistic::opportunistic vs typical}} infections
Published	01/06/2024	IgA deficiency cannot be diagnosed until patient is at least {{c1::4}} years old
Published	01/06/2024	If a patient presents with recurrent sinusitis and pneumonia, you should first order CBC and then order {{c1::IgG, IgA, IgM, IgE}}
Published	01/06/2024	SCID due to Omenn syndrome presents with:{{c1::Low}} IgG{{c1::Low}} IgA{{c1::Low}} IgM{{c1::High}} IgE
Published	01/06/2024	In X-linked SCID, all lymphocyte counts are reduced except {{c1::B cells}}
Published	01/06/2024	In Omenn syndrome SCID, all lymphocyte counts are reduced except {{c1::NK cells}}
Published	01/06/2024	The X-linked recessive form of CGD is caused by a {{c1::CYBB::gene}} deficiency
Published	01/06/2024	Aspergillus fumigatus most often affects patients with impaired {{c1::neutrophils (WBCs)}}
Published	01/06/2024	Individuals with neutropenia are susceptible to {{c1::molds (Aspergillus and Mucormycosis)::which fungi}}
Published	01/06/2024	SCID causes deficiency in {{c1::cell-mediated (T cell)}} immunity
Published	01/06/2024	Individuals with SCID (T-cell deficiency) are susceptible to {{c1::endemic fungi (Histo, Blasto, Cocci)::which fungi}}
Status	Last Update	Fields