Immunological deficiencies have been shown in many children bearing thymic malformations. In some children both cell-mediated and humoral immune reactions have been depressed, the former indicated by abnormalities of delayed hypersensitivity and of homograft rejection, and the latter by deficient antibody responses and hypo-y-globulinaemia. Such findings are in accord with the experimental evid...

The diagnosis of Celiac Disease (CD) relies on the concordance of pathological, serological, genetic and clinical features. For this reason, the diagnosis of CD is often a challenge. Seronegative celiac disease (SNCD) is defined by the negativity of anti-tissue transglutaminase antibodies in the presence of a positive histology on duodenal biopsy samples, i.e. inflammatory infiltrate of intra-e...

DNA double-strand break repair via non-homologous end joining (NHEJ) is involved in recombination of immunoglobulin and T-cell receptor genes. Mutations in NHEJ components result in syndromes that are characterized by microcephaly and immunodeficiency. We present a patient with lymphopenia, extreme radiosensitivity, severe dysmaturity, corpus callosum agenesis, polysyndactily, dysmorphic appear...

Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic hypermutation (SHM). Deficiencies in CD40 ligand, CD40, activation-induced cytidine deaminase, and uracil-N-glycosylase may account for this syndrome. We previously described another...

identification of acid-fast bacilli (afb) in sputum or tissue samples is among definite diagnostic methods of tuberculosis. however, this method of diagnosis is restricted by certain limitations.   serologic diagnosis of tuberculosis (tb) has been used for a long time. the aim of this study was to determine the sensitivity and , specificity of antigen 60 (a60) igg, iga, igm test results in tb d...

BACKGROUND The immune system is a complex adaptive system of cells and molecules that are interwoven in a highly organized communication network. Primary immune deficiencies are disorders in which essential parts of the immune system are absent or do not function according to plan. X-linked agammaglobulinemia is a B-lymphocyte maturation disorder in which the production of immunoglobulin is pro...

common variable immunodeficiency (cvid) is the most common symptomatic primary immunodeficiency disease, predisposing the patients to various tissue involvement and organ damage. here a 16-year-old boy is presented who was referred to our center with cough, dyspnea,cyanosis, and history of recurrent pneumonia. the diagnosis of cvid was made according to reduction all serum immunoglobulin levels...

Intravenous immunoglobulin (IVIG) is a blood product prepared from the serum of of a thousand or more blood donors. The IVIG that is available contains complete immunoglobulin G( IgG )molecules which has intact Fc-dependent effector functions. The IgG subclasses match those in normal human serum. It is the main treatment for patients with antibody deficiencies. High dose IVIG (hdIVIG), is used ...

Purpose: Immunoglobulin replacement is the mainstay treatment in patients with humoral immunodeficiencies, yet a handful of patients continue to develop sinopulmonary infections while on therapy. The objective of our study was to compare immunoglobulin G (IgG) pneumococcal antibody levels in patients with humoral immune deficiencies who have been on intravenous immunoglobulin (IVIG) replacement...

The primary antibody deficiency syndromes are characterised by recurrent respiratory tract infections and the inability to produce effective immunoglobulin (Ig) responses. The best-known primary antibody deficiencies are common variable immunodeficiency (CVID), X-linked agammaglobulinaemia (XLA), immunoglobulin G (IgG) subclass deficiency, and selective antibody deficiency with normal immunoglo...