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460 ParT FOur Immunological Deficiencies

A B

C
FIG 32.6 A 4-Year-Old Girl Presenting With Congenital Neutropenia, Small Stature, and
Pancreatic Insufficiency. Genetic sequencing analysis confirmed diagnosis of Schwachman-
Bodian-Diamond syndrome. (A) Pectus carinatum. (B) Chest computed tomography (CT) scan.
(C) Bone marrow biopsy (hematoxylin and eosin stain; original magnification, ×100). (From Shah
SS, et al. Diagnosis of primary immunodeficiency: let your eyes do the talking. J Allergy Clin
Immunol 2009;124:1363–4, with the permission from Elsevier.)

patients with a defect in humoral immunity. Immune system diagnosed immunodeficiency, although two siblings had a history
evaluation (see Table 32.3) showed a normal absolute neutrophil of recurrent otitis media and bronchitis. The physical examination
count and a low absolute lymphocyte count. The CH50 was revealed normal tonsillar tissue and the presence of small lymph
mildly elevated; this result ruled out a complement component nodes in the cervical region.
deficiency from the differential diagnosis. Ig levels were low. Laboratory values (see Table 32.3) included normal numbers
Antibody levels to diphtheria and tetanus were very low. A thymus of granulocytes and lymphocytes. Serum Ig levels were normal.
shadow was present on the chest radiograph. Lymphocyte evalu- The patient had been immunized and had adequate antibody
ation showed normal numbers and percentages of T cells and titers to tetanus, diphtheria, and Pneumococcus antigens. The
absent numbers and percentages of B cells. Proliferative responses CH50 level was below the lowest measurable level. C3 and C4
of lymphocytes to mitogens were normal. Molecular testing levels were normal, but the level of C2 was 0. The patient’s father,
showed a mutation in the BTK gene. The CSF was remarkable mother, and brother had levels of C2 that were half the normal
for lymphocytic pleocytosis, but the protein and glucose levels value, consistent with being heterozygous for an abnormal C2
were normal. Stool and throat cultures revealed vaccine-strain allele. C2 deficiency was diagnosed. The patient has had chronic
poliovirus. The patient was diagnosed with vaccine-acquired sinusitis and bronchitis despite antibiotic prophylaxis. C2
polio virus infection and X-linked agammaglobulinemia. deficiency is most frequently associated with autoimmune disease;
The patient receives monthly Ig replacement therapy and is this patient has not had autoimmune disease and undergoes
otherwise well. yearly surveillance examinations.
Case 4
The patient was a 3-year-old girl who was hospitalized for Please check your eBook at https://expertconsult.inkling.com/
pneumonia. Her past medical history was significant for recurrent for self-assessment questions. See inside cover for registration
otitis media and bronchitis. The family history was negative for details.