In all forms, the thymus is extremely small, and lymphoid tissue may be decreased or absent. ADA deficiency may cause bone abnormalities. Patients with Omenn syndrome may develop exfoliative dermatitis, erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, eosinophilia, hepatosplenomegaly, and elevated serum IgE levels. Other infants present at age 6 to 12 months. Some have graft-vs-host disease due to maternal lymphocytes or blood transfusions. read more, and diarrhea, leading to failure to thrive. read more, persistent viral infections, Pneumocystis jirovecii pneumonia Pneumocystis jirovecii Pneumonia Pneumocystis jirovecii, an atypical fungus, is a common cause of pneumonia in immunosuppressed patients, especially in those infected with human immunodeficiency virus (HIV) and in those. albicans), manifested by mucocutaneous lesions, fungemia, and sometimes focal infection of multiple sites. There are various forms of SCID that are autosomal recessive defects, so for the infant to be affected with SCID, the same gene must be mutated on both chromosomes.īy age 6 months, most infants with SCID develop systemic candidiasis Candidiasis Candidiasis is infection by Candida species (most often C. It is caused by mutations in any one of many different genes (eg, for autosomal recessive forms, Janus kinase 3, protein tyrosine phosphatase, receptor type, C, recombination activating genes 1 and 2 ). read more that involves combined humoral and cellular immunity deficiencies Combined humoral and cellular immunity deficiencies Immunodeficiency disorders are associated with or predispose patients to various complications, including infections, autoimmune disorders, and lymphomas and other cancers. *Disorders labeled with one asterisk were added to the NBS panel in 2005 using the tandem mass spectrometry (MS/MS) platform.Severe combined immunodeficiency (SCID) is a primary immunodeficiency disorder Primary Immunodeficiencies Immunodeficiency disorders are associated with or predispose patients to various complications, including infections, autoimmune disorders, and lymphomas and other cancers. Early Hearing Detection and Intervention (EHDI) Programĥ9. Guanidinoacetate methyltransferase (GAMT) deficiencyĥ8. T-cell related lymphocyte deficienciesĥ5. Severe combined immunodeficiency (SCID)ĥ4. Glycogen Storage Disease Type II (Pompe)ĥ3. Interpretation of Newborn Hemoglobin Screening resultsĤ8. Methylmalonic acidemia methylmalonyl-CoA mutase (MUT)*ģ9. Methylmalonic aciduria with homocystinuria (Cbl C,D)*ģ8. Methylmalonic acidemia cobalamin disorders (Cbl A,B)*ģ7. 3-Methylcrotonyl-CoA carboxylase deficiency (3-MCC)*ģ6. 3-hydroxy 3-methylglutaric aciduria (HMG)*ģ0. 2-Methylbutyryrl-CoA dehydrogenase deficiency (2MBG)*Ģ9. 2-Methyl-3-hydroxy butyric aciduria (2M3HBA)*Ģ8. Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)*Ģ7. Trifunctional protein deficiency (TFP)*Ģ6. Medium-chain ketoacyl-CoA thiolase deficiency (MCKAT)*Ģ5. Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)Ģ4. Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (M/SCHAD)*Ģ3. Long-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency (LCHAD)*Ģ2. Dienoyl-CoA reductase deficiency (DERED)*Ģ1. Carnitine palmitoyltransferase II deficiency (CPT-II)*ġ9. Carnitine palmitoyltransferase I deficiency (CPT-IA)*ġ7. Carnitine acylcarnitine translocase deficiency (CACT)*ġ6. Biopterin cofactor regeneration defect (BIOPT-REG)ġ5. Biopterin cofactor biosynthesis defect (BIOPT-BS)ġ1. Benign hyperphenylalaninemia defect (H-PHE)ġ0. (Fact sheets are available for some disorders.)ĩ. All infants born in Michigan are screened for 50+ disorders and hearing. Shown below are the disorders included on the screening panel.
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