Heiner syndrome (HS) is a food hypersensitivity pulmonary disease that affects primarily infants, and is mostly caused by cow's milk (CM). Only a few reports have been published, which may be due to its misdiagnosis. We review here a series of eight cases. When first diagnosed they were 4-29 months of age. They were fed CM from birth and their chronic respiratory symptoms began at age 1-9 months. The symptoms were in the form of cough in seven, wheezing in three, hemoptysis in two, nasal congestion in three, dyspnea in one, recurrent otitis media (OM) in three, recurrent fever in four, anorexia, vomiting, colic or diarrhea in five, hematochezia in one, and failure to thrive (FTT) in two. All had radiologic evidence of pulmonary infiltrates. High titers of precipitating antibodies to CM proteins were demonstrated in six of six and milk-specific immunoglobulin E (IgE) was positive in one of two. Pulmonary hemosiderosis (PH) was confirmed in one patient who showed iron-laden macrophages (ILM) in the bronchoalveolar lavage (BAL), gastric washing, and open lung biopsy. Additional findings, in a descending frequency, were eosinophilia, anemia, and elevated level of total IgM, IgE or IgA. Milk elimination resulted in remarkable improvement in symptoms within days and clearing of the pulmonary infiltrate within weeks. Parents consented to milk challenge in only three cases, all of whom developed recurrence of symptoms. After 2 yr of milk avoidance in one patient, milk challenge was tolerated for 2 months, and then the patient developed symptoms, serum milk precipitins, pulmonary infiltrate, and ILM. The HS should be suspected in young children with chronic pulmonary disease of obscure cause. The diagnosis is supported with a positive milk precipitin test and improvement on a trial of milk elimination. Severe cases may be complicated with PH, which should be suspected in the presence of anemia or hemoptysis and be confirmed with the demonstration of ILM.

Purpose: IL-13, RANTES (Regulated on Activation, Normal T cells Expressed and Secreted), and cysteinyl leukotrienes are asthma and atopy mediators. Two RANTES Ϫ403(G to A) and Ϫ28(C to G), an Ϫ1055 IL-13(C to T), and a Ϫ444(A to C) leukotriene C4 synthase (LTC4S) single nucleotide polymorphisms (SNPs) have been shown in Caucasians and Asians as asthma and atopy risk factors. We studied these SNPs in African Americans with asthma and/or atopy. Methods: We studied 61 patients with asthma and/or atopy and 129 to 157 newborn controls for the Ϫ403 RANTES, Ϫ28 RANTES, and Ϫ1055 IL-13 SNPs, as well as 47 patients and 60 newborn controls for the Ϫ444 LTC4S SNP. Results: The two groups did not significantly differ at the genotypes of the Ϫ403 and Ϫ28 RANTES SNP. On the other hand, the mutant TT genotype for the Ϫ1055 IL-13 SNP was detected in 19.7% of patients versus 12.7% in controls (P Ͻ 0.04, OR 2.9, 95% CI 1.0 -8.0), and the mutant T allele in 58.3% versus 36.6% in controls (P Ͻ 0.02, OR 2.4, 95% CI 1.1-5.2). In a similar fashion, for the Ϫ444 LTC4S SNP, the mutant AC genotype was detected in 19.1% versus 10.0% in controls (P Ͼ 0.28); mutant C allele had an OR of 2.1 (95% CI 0.7-6.3). Conclusion: African American asthmatics/atopics had higher frequency of the TT mutant gene for the Ϫ1055 IL-13 SNP and of its mutant T allele. Regarding the Ϫ444 LTC4S SNP, there was a definite difference, although not statistically significant, with an OR of 2.1 for the mutant AC genotype in patients. If these findings become reproduced by larger studies, it may suggest that IL-13 and LTC4S SNPs can be used as predictive markers for asthma/atopy in African Americans. Genet Med 2005:7(6):406 -410.

ABSTRACT. Polyethylene glycol-conjugated adenosine deaminase (PEG-ADA) provides an alternate therapy to mismatched stem cell transplantation for patients with ADA-deficient severe combined immunodeficiency. Although replacement therapy with PEG-ADA is effective in preventing infections, immune function does not return to normal, and most patients remain lymphopenic. Information is limited regarding the prognosis of patients on long-term ADA-replacement therapy. Here we present a case of a 10-year-old child who was diagnosed with ADA-severe combined immunodeficiency at 4 weeks of age after contracting pneumonia. Treatment with PEG-ADA was begun, the biochemical markers of ADA deficiency normalized, and his clinical progress was very good without significant infections. Lymphoproliferative disorders, usually related to Epstein-Barr virus (EBV), may develop in individuals with certain types of primary immunodeficiencies, including SCID. Polyethylene glycol-conjugated bovine ADA (PEG-ADA) is a replacement therapy for ADA deficiency. 3,4 PEG prolongs the half-life of the ADA enzyme by reducing its catabolism. By greatly reducing the levels of toxic metabolites, PEG-ADA therapy has been successful in preventing infections, although restoration of immune function is only partial. Information regarding the long-term prognosis of patients receiving PEG-ADA is limited. Here we report the case of a boy who received PEG-ADA for 10 years with effective control of infections but ultimately developed cerebral lymphoma. CASE REPORTA 10-year-old white male who was being followed at our allergy/immunology clinic for ADA-SCID and had been doing well on PEG-ADA (Adagen; Enzon, Inc, Piscataway, NJ) therapy presented to his pediatrician because of a 6-week history of headache, eye deviation, and weakness. The headache was increasingly severe, constant, and localized to the left frontotemporal area. There was no aura, and the pain was unrelated to positional change. Increasing dose and frequency of nonsteroidal antiinflammatory drugs had been ineffective for pain relief. For the previous few weeks, he had a decreased appetite and an ϳ10-lb weight loss. One week before presentation, his right eye appeared medially deviated, and his right upper and lower extremities became weak. His pediatrician noticed no fever or nuchal rigidity and transferred him to our hospital.He was the family's firstborn as a term infant. At 4 weeks of age, he developed severe pneumonia, and an immunologic evaluation at another academic institution revealed ADA-SCID with red-cell ADA activity of 0.5 nmol/hour per mg protein (ϳ1% of normal). His ADA genotype was Ala833 Asp in exon 4 of one allele and a 5Ј splice junction mutation ϩ 1 Gly3 Ala in exon 5 of his second ADA allele. 5 A matched bone marrow transplant (BMT) donor could not be found, and the patient's family declined mismatched BMT, preferring ADA-replacement therapy. With the initiation of PEG-ADA therapy, plasma ADA activity increased by ϳ100-to 1000-fold, and the level of erythrocyte deoxyadenosine n...

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