Primary Immunodeficiency Flashcards
(35 cards)
What mutation causes Leukocyte Adhesion Deficiency 2? Why?
Mutation in GDP-fructose transporter that inhibits leukocyte rolling due to decreased ligand expression for selectins. Causes distinct facial features, hypotonia, retardation, recurrent infections
What is the clinical presentation of SCID?
Chronic diarrhea, diaper rash, failure to thrive, oral Candidiasis, recurrnt infections, lesions, oppotunistic infections
A patient is diagnosed with Common Variable Immunodeficiency. What types of infections are they at increased risk of acquiring? Why?
Increased risk of sinopulmonary infections, autoimmune diseases, and malignancies because of a deficiency in plasma cell production causing low Ig levels
A mother reports to the clinic with her 2-year-old son, who is diagnosed with his fourth fungal infection since birth. The mother also reports child is not growing as quickly as her other children. You notice hypotonia and unique facial features. What immunodeficiency may this child have? How can you test for the immunodeficiency?
Leukocyte Adhesion Deficiency 2 - Flow cytometry for CD15
A patient has a mutation in the common gamma chain that impairs cytokine signaling. What is the immunodeficiency? What is the immunological presentation?
X-Linked SCID - impaired maturation of B, T, & NK cells
A mother gives birth to a healthy appearing newborn. A few months later, the infant becomes ill and is diagnosed with SCID. The mother asks why the diagnosis was not made at birth.
Newborns have less exposure to pathogens during the early part of their life. They also have some protection from the mother’s IgG & IgA (when breastfed) antibodies. Because of this, babies with SCID may appear healthy.
What are the three types of Severe Combined Immunodeficiency?
X-Linked SCID, Adenosine Deaminase Deficiency, RAG Deficiency
Patients with Bare Lymphocyte Syndrome 2 are at increased susceptibility to what types of infections?
Respiratory, gastrointestinal, urinary tract infections
A patient is diagnosed with a mutation in STAT3 that is causing their immunodeficiency. What is the immunodeficiency? What are the immunological and clinical presentations?
Job Syndrome
Deficient Th17 response, impaired neutrophil recruitment, high eosinophils, high IgE
Coarse facies, abscesses, retained teeth, increased IgE, eczema, bone fractures
A patient is diagnosed with ADA SCID. What is the immunological presentation?
Deficiency in the adenosine deaminase of the purine synthesis pathway causes a buildup of toxins and reduced B & T cell numbers
What is the age of onset and inheritance patter of Chediak-Higashi syndrome?
Onset during infancy or childhood. Autosomal recessive inheritance
What is the inheritance pattern of leukocyte adhesion deficiency 2?
Autosomal Recessive
What is DiGeorge Syndrome? What is the clinical presentation?
A deletion of 22q11 that results in incomplete development of the thymus and low T cell count. Clinical presentation includes - cardiac defects, abnormal facial features, thymic hypoplasia, cleft palate, hypocalcemia
How does the inheritance pattern of the SCID types differ?
X-Linked = X-Linked
ADA & RAG = Autosomal Recessive
What immunodeficiency is caused by a defect in the NADPH oxidase that inhibits superoxide formation? How would a patient with this immunodeficiency present?
Chronic Granulomatous Disease - recurrent infections with catalase + bacteria and granuloma formation
A mutation in the Bruton Tyrosine Kinase causes what immunodeficiency? How?
X-linked Aggamaglobulinemia - BTK is required for B cell maturation beyond a pre-B cell. The result is no immunoglobulins, no circulating B cells, and no plasma cells.
What is the pattern of inheritance of Leukocyte Adhesion Deficiency 1?
Autosomal Recessive
What is the inheritance pattern of Chronic Granulomatous Disease? How can you diagnosis the immunodeficiency?
Autosomal Recessive or X-Linked Inheritance. Diagnosis my measurement of superoxide production
What is the inheritance pattern and age of onset of Hyper IgM Syndrome?
X-Linked Recessive diagnosed within the first year of life
What is the clinical presentation of Wiskott-Aldrich Syndrome?
Thrombocytopenia, eczema, recurrent pyogenic infections
What is the only T cell immunodeficiency with an autosomal dominant inheritance pattern? When is onset?
Job Syndrome - onset during childhood
What is the difference between Bare Lymphocyte Syndromes 1 & 2?
Bare Lymphocyte Syndrome 1 = Mutation in TAP protein causes decreased MHC I levels and thus lower CD8 T cell count
Bare Lymphocyte Syndrome 2 = Failure to express MHC II that results in low CD4 T cell numbers and antibodies
Individuals a T cell immunodeficiency are more susceptible to what types of infections?
Intracellular bacteria, viruses - lack of CD8+ T cells responsible for killing infected cells
True/False. The 10 warning signs of primary immunodeficiency are the same for adults and children.
False. While the warning signs are the same, the number of requirements may change. In general, children require more repeated infections than adults to raise concerns of a primary immunodeficiency.
