Clinical Working Party

Resources

Differential Diagnosis of Hypogammaglobulinemia

Drug Induced Antimalarial agents Captopril Carbamazepine Glucocorticoids Fenclofenac Gold salts Penicillamine Phenytoin SulfasalazineGenetic Disorders Ataxia Telangiectasia Autosomal forms of SCID Hyper IgM Immunodeficiency Transcobalamin I...

DiGeorge Syndrome

Definitive  Male or female patient with reduced numbers of CD3+ T cells (less than 500/mm3) and two of the three following characteristics: Conotruncal cardiac defect (truncus arteriosus, tetrology of Fallot, interrupted aortic arch or aberrant...

IgA Deficiency

Definitive Male or female patient greater than 4 years of age who has a serum IgA of less than 7 mg/dl (0.07 g/L) but normal serum IgG and IgM, in whom other causes of hypogammaglobulinemia have been excluded (see 'Differential Diagnosis of Hypogamma...

Leukocyte Adhesion Defects (LAD)

Definitive A male or female patient with decreased intensity of expression of CD18 on neutrophils (less than 5% of normal) and at least one of the following: Mutation in the b2 integrin gene Absence of b2 integrin mRNA in leukocytes Probable...

MHC-Class II Deficiency

Definitive Male or female patient with decreased intensity of expression (less than 5% of normal) of HLA-DR or DP on B cells or monocytes and a mutation in one of the following genes: CIITA, RFX-B, RFX-5 or RFX-AP ProbableMale or female patient wi...

Quality Assurance For Pneumococcal Assays in Europe

The European Primary Immunodeficiencies (PIDs) Consensus Conference in Langen (2006) outlined the need for quality assurance for assays to measure specific antibodies to common pathogens and immunization antigens. In order to make a diagnosis of primary antibody failure, it is important to show that a patient is unable to make antibodies to pathogens; this may be demonstrated using either common exposure antigens or those used for immunization. Streptococcus pneumoniae, a common gram positive bacterium, is one such pathogen that is estimated by the WHO to be responsible for over one million acute deaths worldwide. This includes patients with primary immune deficiencies, who are particularly susceptible to infections caused by encapsulated bacteria.
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Severe Combined Immunodeficiency (SCID)

Definitive Male or female patient less than 2 years of age with either a) engraftment of transplacentally acquired maternal T cells; or b) less than 20% CD3+ T cells, an absolute lymphocyte count of less than 3000/mm3 and at least one of the followin...

Wiskott-Aldrich Syndrome

Definitive Male patient with congenital thrombocytopenia (less than 70,000 platelets/mm3), small platelets and at least one of the following: Mutation in WASP Absent WASP mRNA on northern blot analysis of lymphocytes Absent WASP protein in lympho...

X-Linked Agammaglobulinemia

Definitive Male patient with less than 2% CD19+ B cells and at least one of the following: Mutation in Btk Absent Btk mRNA on northern blot analysis of neutrophils or monocytes Absent Btk protein in monocytes or platelets Maternal cousins, uncle...

X-Linked Hyper IgM (XHIM)

Definitive Male patient with serum IgG concentration at least 2 SD below normal for age and one of the following: Mutation in the CD40L gene Maternal cousins, uncles, or nephews with confirmed diagnosis of XHIM Probable Male patient with seru...