Immunodeficiency syndromes Flashcards
Angioedema vs Urticaria
Similar
But angioedema lesions appear in deeper layers of skin (subQ)
Chronic urticaria
Hives lasting > 6 weeks
X linked agammaglobulinemia
B cell
X linked recessive
Defect in Bruton’s tyrosine kinase (need for B cell signaling)
Recurrent respiratory tract infections > 6 mo
Nl T-cells (CD3+)
low B-cells (CD19+)
Hypoplasia of tonsils and adenoids
No lymphadenopathy or splenomegaly
Tx - IVIG regular infusions can have nl life
DO NOT give live attenuated virus vaccines
IgA deficiency
1 humoral antibody deficiency
B cell
Possibly AD inheritance
Recurrent respiratory + UTI + diarrhea
Careful when admin blood products - can develop anti-IgA antibodies causing anaphylactic rxn
3 week old infant p/w generalized seizure
No issues at birt, good prenatal care
No issues in infancy except seizure
PE:
- hypertelorism
- low set ears
- micrognathia
- fish mouth
T cell
DiGeorge syndrome
- results from underdev of 3rd and 4th pharyngeal pouches –> hypoplasia of thymus and parathyroids
- Chromosome 22 q11 deletion is cause
Presentation:
- usually present with hypocalcemic seizure (tetany)
- recurrent viral/fungal infections
PE:
- epicanthal folds to eyes
- hypertelorism of eyes
- low set ears
- bifid uvula
- short philtrum
- micrognathia
- fish mouth
- confenital heart dz (ASD, VSD)
Tx
- thymic tissue transplant
- HLA identical bone marrow transplant to help w/ immune deficiency
DDx - FAS has similar facial features
Coarse facies
Cold (noninflammed) staph abscesses
Retained primary teeth
Increased IgE
Eczema
T cell
Hyper IgE syndrome (Job’s syndrome)
Th1 cells can’t make IFN-gamma –> inability of neutrophils to respond to chemotactic stimuli
Increased IgE
FTT
Chronic diarrhea
Thrush
Absence of thymic shadow
Absence of germinal centers and B cells
B and T cell
SCID
Defective IL-2 receptor is most common
- also ADA deficiency
3 year old child p/w ataxia, masklike facies, drooling, tics, irregular eye mvmts
Ataxia started at 1 yo
Eyes have telangectasias
Hx of recurrent respiratory infections (IgA deficiency)
B and T cell
Ataxia telangiectasia
- AR
- Mutated gene on Chr 11
Ataxia (cerebellar ataxia is 1st neuro sign)
Telangiectasia of eyes and skin
Chronic sinopulmonary disease
Endocrine abnormalities
PE:
- masklike facies
- drooping
- tics
- irregular eye mvmts
Labs:
- low IgA, IgE, IgM
- increased AFP
Severe pyogenic infections early in life
B and T cell
Hyper IgM syndrome
Increased IgM
LOW IgG, IgA, IgE
1 year infant p/w severe eczema
Draining ears
Petechial rash
Recurrent infections, including otitis media and pneumonia
B + T cell
Wiskott Aldrich
- X linked recessive
- T cells can’t recognize actin cytoskeleton
TIE syndrome:
- Thrombocytopenia
- Recurrent Infection
- Eczema
Labs:
- increased IgA and IgE
- low IgG and IgM
Tx:
- splenectomy for thrombocytopenia
- bone marrow transplant
Recurrent bacterial infections
Absent pus formation
Delayed separation of umbilical cord
Phagocyte dysfunction
Leukocyte adhesion deficiency
Defect in LFA-1 integrin on phagocytes
Will have leukocytosis w/ neutrophil predominance
BUT infected tissue doesn’t have neutrophils
- leukocytes (esp neutrophils) can’t exit blood vessels and migrate to areas of infection or inflammation
- therefore, neutrophils can’t get to infected tissues
Recurrent pyogenic infections by staph and strep
Partial albinism
Peripheral neuropathy
Phagocyte dysfunction
Chediak Higashi
- AR
- Defect in LYST gene
- microtubule dysfunction in phagosome-lysosome
Giant granules in neutrophils
Tx:
- ppx w/ daily TMP/SMX
- daily ascorbic acid
Increased susceptibility to catalase + organisms (S. aureus, E coli, Aspergillus)
Chronic granulomatous disease
Infections susceptible: S aureus Serratia Burkholderia Klebs Aspergillus
Phagocyte dysfunction
Lack of NADPH oxidase –> dec ROS –> no respiratory burst in neutrophils!
Abnormal dihydrorhodamine (DHR) flow cytometry test
Other sx:
- lymphadenopathy
- hypergammaglobulinemia
- hepatomegaly
- splenomegaly
- ACD
- underweight
- chronic diarrhea
- short stature
- gingivitis
- dermatitis
Tx:
- daily TMP/SMX
- gamma IFN 3x/wk
- bone marrow transplant is curative
