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Ataxia Telangiectasia

Definitive Male or female patient with either increased radiation induced chromosomal breakage in cultured cells, or progressive cerebellar ataxia, who has disabling mutations on both alleles of ATM.Probable Male or female patient with progressive cer...

Diagnostic Criteria PID

Here is a list of various PID with clearly established diagnostic criteria.

*Important announcement* StemPAD study

A study on the outcome of transplant for antibody deficiency and CVID in collaboration with EBMT Inborn Errors WP and ESID BMT and Clinical WP.

Chest CT in antibody deficiency: Updated CRF

The Chest CT in Antibody Deficiency Group ( has updated its documentation sheet.

Chronic Granulomatous Disease

Definitive  Male or female patient with abnormal NBT or respiratory burst in activated neutrophils (less than 5% of control) who has one of the following: 1) Mutation in gp91, p22, p47 or p67 phox 2) Absent mRNA for one of the above genes by nort...

Cinical Trials in PID - Current overview

Clinical Trial Form - blank Msword, 24.50 kB...

Common Variable Immunodeficiency (CVI) diagnosis criteria

Probable Male or female patient who has a marked decrease of IgG (at least 2 SD below the mean for age) and a marked decrease in at least one of the isotypes IgM or IgA, and fulfills all of the following criteria: 1) Onset of immunodeficiency at grea...

Diagnostic Criteria Workshop

IgG subclass deficiencies

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...