All of the following are correctly matched except?
APCED - AIRE gene is affected - T cells react to self antigens (Central tolarence)
IPEX - FOX P3 is affected - Lack of Tregs - autoimmune - Peripheral tolarence
Chronic granulomatous Disease - gp91 gene - NADPH oxidase deficiency
Leucocyte adhesion deficiency - CD20 deficiency
All of the following lead to suspicion of an immunodeficiency in infants or children except
Needs for IV antibiotics and or hospitalization
2 or more serious sinus infections or pneumonias within a year
Recurrent or resistant candidasis
Infection with opportunistic organism
Resistant to viral infections
All of the following are defects in phagocytic cells except?
LAD (Leukocyte Adhesion Deficiency)
CGD (chronic granulomatous disease)
G6PD deficiency
Myeloperoxidase deficiency
Chediak-Higashi syndrome
None of the above
All of the following are seen in LAD except?
Recurrent viral infections
Elevated white blood count
autosomal recessive
Rebuck Skin window test and flow cytometric analyses show absence of CD18 are diagnostic
Absence of pus and delayed wound healing
For CGD dihydrorhodamine test (DHR) is more accurate than NBT
Chediak Higashi - no oxidative burst
Chronic granulomatous disease - no oxidative burst
Both of the above
all of the following are correctly matched except?
Paroxysmal Nocturnal Hemoglobinuria - DAF deficiency (CD55/CD59)
Hereditary Angioedema - C1 esterase deficiency
CH50 tests - alternate pathway and A50 tests - classic pathway
All of the following about Bruton's agammaglobulinemia are correct except?
X linked recessive transmission
Serum titers of IgM is not detectable, Iga and IgG are low
cannot handle measles infection
none of the above
Caused by mutation in btk gene (Bruton's tyrosine kinase)
X linked hyper IgM (XHIGM) - all of the following are true except?
a B cell defect
CD 40 L is deficient
All of the following for selective IgA deficiency are true except?
Most common immunodeficiency in European descent
Only mucosal IgA is absent and serum is normal
Some patients when transfused with blood containing normal IgA develop severe even fatal anaphylactic reaction because they have made IgE anti-IgA antibodies
IN CVID the roles in B and plasma cell survival and isotype switch is common due to a defect in TACI
all of the following are true about Di George syndrome except
Autosomal dominant inheritance
Deletion of 22q11
Hypercalcemia
Low set ears, underdeveloped jaw, small mouth, abnormally increased distance between the eyes
All of the following are true about Bare Lymphocytes syndrome (BLS) except?
BLS type I - MHCII deficiency, BLS type II - MHC I deficiency
Mutation in TAP 1 or TAP 2 genes
All of the above
All the following statements are true except?
ADA deficiency - has NO T,B, NK cell
PNP deficiency - No T cells
X linked SCID - No T cells
Autosomal SCID - NO T or B cells
All of the following about X- linked SCID are true except?
LEAST common form of SCID
Mutation of the gamma-c chain of IL-2 receptor (CD132)
Normal B cell levels
lack of delayed hypersensitivity, atrophy of thymus, susceptible to viral fungal and bacterial infections, lymphocytopenia
All of the following are true except?
JAK3 deficiency - Autosomal Dominant SCID
Omenn Syndrome - Cannot undergo somatic recombination
The following are correctly matched except?
X linked SCID - absent T cells, B cells present - Jak 3 deficiency and CD45 deficiency
IL-7R alpha chain deficiency - CD3 delta chain deficiency - absent T cell, B cell absent
ADA deficiency - absent T and B cells
RAG1 or RAG2 deficiency - absent T and B cells
All of the following are true about Wiskott-ALdrich Syndrome except ?
X-linked recessive
Thrombocytosis (elevated platelet levels)
Severe eczema by one year of age - elevated IgE
recurrent pyogenic infections with encapsulated bacteria, bloody diarrhea
All of the following about Ataxia-Telangiectasia are true except?
Autosomal recessive
Selective IgM deficiency
X-linked lymphoproliferative syndrome - highly fatal infectious mononucleosis
In both multiple mylemoa and Waldenstrom's Macrogobulinemia have punched out lesions in the skull
