21 - 132 - GENETIC IMMUNODEFICIENCY DISEASES

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Question 26

1 year old male, came in with a chief complaint of recurrent furunculosis and otitis media. The pediatrician also noted barely detectable tonsils and cervical lymph nodes.

1. Which of the following would support the diagnosis’

A. Absence of B cells in the peripheral circulation

B. Autoantibodies against type 1 interferon

C. thrombocytopenia 1000 to 80,000 platelets/microliter

D. Large cytoplasmic granules in blood leukocytes

Answer 26

A
Agammaglobulinemia is characterized by recurrent pyogenic infections that often begin after 6 months of age, concurrent with the waning of maternal immunoglobulins. These patients have absent or barely detectable tonsils and cervical lymph nodes. P. 2394 The diagnosis of agammaglobulinemia is made by serum concentrations of IgG, IgA, and IgM that are far below the 95% confidence limits for appropriate controls (usually less than 100 mg/dL total Ig) and by the virtual absence of B cells in the peripheral circulation. P. 2396

Question 27

10 year old male came in with a chief complaint of recurrent recalcitrant thrush. Physical examination revealed erythematous scaling plaques with few thickened, brittle and discolored nails.

In relation to above case, all are most commonly affected areas, except:

A. Scalp

B. Palms and soles

C. Intertriginous areas

D. Periorificial sites

In relation to above case, what is the treatment of choice

A. Ig replacement

B. Azole antifungal

C. Empiric broad-spectrum antibiotics

D. Early transplantation

Which of the following would support the diagnosis’

A. Absence of B cells in the peripheral circulation

B. Autoantibodies against type 1 interferon

C. thrombocytopenia 1000 to 80,000 platelets/microliter

D. Large cytoplasmic granules in blood leukocytes

In relation to above case, what is the treatment of choice

A. Ig replacement

B. Azole antifungal

C. Empiric broad-spectrum antibiotics

D. Early transplantation

Answer 27

B
the clinical presentation ranges from recurrent, recalcitrant thrush (Fig. 132-4) to mild erythematous scaling plaques (Fig. 132-5) with a few dystrophic nails to severe generalized, crusted granulomatous plaques The cutane- ous plaques occur most commonly in intertriginous areas, periorificial sites, and the scalp, but they may be generalized. P.2399

B
Candidal lesions in patients with CMC generally respond to long-term systemically administered azole antifungal agents (itraconazole, fluconazole) or terbinafine. P.2401 A 8 year old male was noted to have a silver sheen to the hair. You noted that the patient is typically fair compared to other family members. His mother claims that he has recurrent skin infections since newborn period.

D Chediak higashi syndrome usually first show manifestations during infancy or early childhood. Pigment abnormalities occur in 75% of patients, particularly the silver sheen to the hair (Fig. 132-15A). P. 2416. Diagnosis is usually suspected clinically because of the silvery sheen to the hair. The finding of large cytoplasmic granules in blood leukocytes is highly diagnostic. P.2417

D
The treatment of choice for patients with CHS is early transplantation p. 2418