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Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report.

Ital J Pediatr. 2014;40:2

Authors: Kepenekli E, Soysal A, Kuzdan C, Ermerak NO, Yüksel M, Bakır M

Abstract
Invasive aspergillosis is an important cause of morbidity and mortality in immunocompromised patients. Among primary immunodefiencies, chronic granulomatous disease (CGD) has the highest prevalence of invasive fungal diseases. Voriconazole is recommended for the primary treatment of invasive aspergillosis in most patients. In patients whose aspergillosis is refractory to voriconazole, therapeutic options include changing class of antifungal, for example using an amphotericin B formulation, an echinocandin, combination therapy, or further use of azoles. Posaconazole is a triazole derivative which is effective in Aspergillosis prophylaxis and treatment. Rarely, surgical therapy may be needed in some patients. Lesions those are contiguous with the great vessels or the pericardium, single cavitary lesion that cause hemoptysis, lesions invading the chest wall, aspergillosis that involves the skin and the bone are the indications for surgical therapy.Chronic granulomatous disease (CGD) is an inherited immundeficiency caused by defects in the phagocyte nicotinamide adenine dinucleotidephosphate (NADPH) oxidase complex which is mainstay of killing microorganisms. CGD is characterized by recurrent life-threatening bacterial and fungal infections and by abnormally exuberant inflammatory responses leading to granuloma formation, such as granulomatous enteritis, genitourinary obstruction, and wound dehiscence. The diagnosis is made by neutrophil function testing and the genotyping.Herein, we present a case with CGD who had invasive pulmonary aspergillosis refractory to voriconazole and liposomal amphotericine B combination therapy that was controlled with posaconazole treatment and pulmonary surgery.

PMID: 24401677 [PubMed – indexed for MEDLINE]

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Identification of Two Novel Mutations in Patients With X-Linked Primary Immunodeficiencies.

Fetal Pediatr Pathol. 2014 Oct 29;

Authors: Yu L, Wang X, Wang Y, Wang J

Abstract
Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders with defects in one or more component of the immune system. In this study, we analyzed gene mutations in four X-linked PID pedigrees, which include one X- linked agammaglobulinemia (XLA) pedigree, one X-linked chronic granulomatous disease (XCGD) pedigree, and two X-linked Hyper IgM syndrome (XHIGM) pedigrees. Sequence analysis of the BTK gene revealed a novel mutation (c.1802_1803delinsGCC, p.Phe601CysfsX3) which results in the developmental arrest of B cells in the bone marrow. Sequence analysis of the CYBB gene revealed a recurrent frameshift mutation (c.1313_1314delinsT) in exon 10, which generates a premature stop codon (p.Lys438IlefsX63). One novel frameshift mutation (c.114delG, p.Ser39GlnfsX14) and one recurrent missense mutation (c.499G>C, p.Gly167Arg) were found in the CD40LG gene and cause defective T cell functioning. In conclusion, our study identified two novel mutations on the BTK and CD40LG genes in Chinese patients and established accurate and simple genetic diagnostic methods for three X-linked PID.

PMID: 25353698 [PubMed – as supplied by publisher]

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Laboratory clues to immunodeficiency; missed chances for early diagnosis?

J Clin Pathol. 2014 Oct 28;

Authors: Bright PD, Rooney N, Virgo PF, Lock RJ, Johnston SL, Unsworth DJ

Abstract
Primary immunodeficiency is seen in an estimated one in 1200 people, and secondary immunodeficiency is increasingly common, particularly with the use of immunosuppresion, cancer therapies and the newer biological therapies such as rituximab. Delays in the diagnosis of immunodeficiency predictably lead to preventable organ damage. Examples of abnormal pathology tests that suggest immunodeficiency from all laboratory specialities are given, where vigilant interpretation of abnormal results may prompt earlier diagnosis. If immunodeficiency is suspected, suggested directed testing could include measuring immunoglobulins, a lymphocyte count and T-cell and B-cell subsets.

PMID: 25352642 [PubMed – as supplied by publisher]

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Hypogammaglobulinemia-associated gastrointestinal disease-A case series.

Indian J Gastroenterol. 2014 Oct 30;

Authors: Desai L, Kurien RT, Simon EG, Dutta AK, Joseph AJ, Chowdhury SD

Abstract
Hypogammaglobulinemia, a form of primary immunodeficiency, is an uncommon condition. Gastrointestinal (GI) symptoms may be the only presentation. A series of 22 patients who presented with GI symptoms and were diagnosed with hypogammaglobulinemia is presented. Chronic diarrhea was the presentation in majority (90.9 %) of patients. Malabsorption was identified in 87.5 % of patients followed by weight loss (59.0 %), abdominal pain (27.2 %), and oral ulcers (4.5 %). The median duration of symptoms prior to diagnosis was 4 years, range being 6 months to 23 years. Evaluation revealed opportunistic infections including Giardia lamblia in 31.8 % and Cryptosporidium parvum, Isospora belli, Cytomegalovirus and Aeromonas in 4.5 % each. Serum globulins were low in all patients. Duodenal biopsy showed paucity of plasma cells in 45 %, villous atrophy in 35 % and nodular lymphoid hyperplasia in 30 % patients. Though uncommon, hypogammaglobulinemia is associated with GI disease. The possibility of a primary immunodeficiency should be considered in patients presenting with GI symptoms and low serum globulin.

PMID: 25352181 [PubMed – as supplied by publisher]

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Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.

J Clin Immunol. 2014 Oct 29;

Authors: Hartman HN, Niemela J, Hintermeyer MK, Garofalo M, Stoddard J, Verbsky JW, Rosenzweig SD, Routes JM

Abstract
Gain of function (GOF) mutation in the p110δ catalytic subunit of the phosphatidylinositol-3-OH kinase (PIK3CD) is the cause of a primary immunodeficiency (PID) characterized by recurrent sinopulmonary infections and lymphoproliferation. We describe a family of two adults and three children with GOF mutation in PIK3CD, all with recurrent sinopulmonary infections and varied infectious and non-infectious complications. The two adults have Primary Sclerosing Cholangitis (PSC) without evidence of Cryptosporidium parvum infection and have required liver transplantation. PSC is a novel phenotype of GOF mutation in PIK3CD.

PMID: 25352054 [PubMed – as supplied by publisher]

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