For the below set of immunologic abnormalities, select the most likely clinical presentation.Serum IgGSerum IgASerum IgMT-cell functionParathyroid functionNormalHighLowDecreasedNormal
Correct Answer: A 1-year-old boy with severe eczema, recurrent middle-ear infections, lymphopenia, and thrombocytopenia
Description: Many primary immunologic deficiencies can be classified as defects of T- lymphocyte function (containment of fungi, protozoa, acid-fast bacteria, and certain viruses) and B-lymphocyte function (synthesis and secretion of immunoglobulins). Among the T-cell diseases is DiGeorge anomaly, in which defective embryologic development of the third and fourth pharyngeal pouches results in hypoplasia of both thymus and parathyroid glands. Associated findings with DiGeorge anomaly include CATCH: C for cardiac, A for abnormal faces, T for thymic hypoplasia, C for cleft palate, and H for hypocalcemia.Primary B-cell diseases include X-linked agammaglobulinemia (XLA, or Bruton disease), a deficiency of all three major classes of immunoglobulins, as well as other selective deficiencies of the immunoglobulins or their subgroups. This condition usually presents after 3 months of age (after maternal antibodies wane) with recurrent and often simultaneous bouts of otitis media, pneumonia, diarrhea, and sinusitis, but usually without fungal and viral infections. Combined T- and B-cell diseases include the X-linked recessive Wiskott-Aldrich syndrome of mild T-cell dysfunction, diminished serum IgM, marked elevation of IgA and IgE, eczema, recurrent middle-ear infections, lymphopenia, and thrombocytopenia. Patients with the catastrophic combined T- and B-cell disease known as severe combined immunodeficiency disease (Swiss-type lymphopenic agammaglobulinemia or SCID), have deficient T and B cells. Consequently, they have lymphopenia and agammaglobulinemia, as well as thymic hypoplasia. Chronic diarrhea; rashes; recurrent, serious bacterial, fungal, or viral infections; wasting; and early death are characteristic. Other T- and B-cell deficiencies include ataxia telangiectasia and chronic mucocutaneous candidiasis.Job-Buckley syndrome is a disorder of phagocytic chemotaxis associated with hypergammaglobulin E, eczema-like rash, and recurrent severe staphylococcal infections.
Category:
Pediatrics
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