Herein the first molecular diagnosis of a Brazilian child with Shwachman-Diamond Syndrome is reported. A 6-year-old boy was diagnosed with cystic fibrosis at the age of 15 months due to recurrent respiratory infections, diarrhea and therapeutic response to pancreatic enzymes. Three sweat tests were negative. At the age of 5 years, he began to experience pain in the lower limbs, laxity of joints...

The clinical and immunological aspects of 16 children with the syndrome of hypogammaglobulinaemia associated with normal or increased IgM (the hyper IgM syndrome) and their responses to treatment are reviewed. Increased concentrations of IgM, neutropenia, and recurrent infections could usually be controlled by antimicrobial and intravenous immunoglobulin treatment. Together with the bacterial i...

By H. E. HUTCHISON AND W. D. ALEXANDER T HE POSSIBILITY that overactivity of the spleen might cause neutropemsia, mentiomsed by Bauer us 1899,’ was discussed at lemsgth by Framskm who drew attentious to the close associatious betweeus splemsomegaly of diverse etiology amid iseutropemsia; that was its 1916, the year its which Kaztselsonm first reported rise of the platelet coumit followiusg remo...

T HE syndrome of chronic neutropenia has long been recognized. Roberts and Kracke’ in 1931 described the symptom complex of fatigability, weakness, nervousness, and a predisposition to intercurrent infections which occurred in a large percentage of their patients who had neutropenia. Doan2 classified the chronic neutropenias in three groups: (i) those cases with a persiste itly low leukocyte co...

We describe a woman with severe neutropenia and dependency on red blood cell transfusions who had previously undergone Billroth II surgery and whose bone marrow (BM) showed morphologic characteristics typical of myelodysplastic syndrome (MDS) with ringed sideroblasts. She had transient reversal of anemia and severe neutropenia after therapy with erythropoietin and granulocyte colony-stimulating...

BACKGROUND Dermatomyositis is a humoral-mediated inflammatory myopathy with symmetrical proximal muscle weakness and dermatological manifestations such as Gottron's papules, heliotrope rash, periungual abnormalities, and flagellate erythema. Erythroderma is a severe and potentially life-threatening dermatological condition with diffuse erythema and scaling involving more than 90% of the skin su...

Severe congenital neutropenia (SCN) is a heterogeneous disease condition with a variable family history and a propensity to progress towards myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML). In a subgroup of patients, point mutations in the G-CSF-R gene have been found. These nonsense mutations result in the truncation of the C-terminal cytoplasmic region, a subdomain that i...