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At a glance

A heterogenous group of genetic disorders characterized by a congenital deficit in humoral or cellular immunity.

Synonyms

☞Wiskott-Aldrich Syndrome; Ataxia-Telangiectasia Syndrome; ☞DiGeorge Syndrome; ☞Velocardiofacial Syndrome; ☞CHARGE Syndrome; Schimke Immuno-Osseous Dysplasia; ☞Netherton Syndrome; ☞Coats Disease; ☞Kabuki Syndrome; ☞SCID, X-linked Agammaglobulinemia Syndrome; µ Heavy Chain Deficiency; PIK3R1 Deficiency; NFKB1 Deficiency; AID Deficiency; ☞Chediak-Higashi Syndrome; ☞Griscelli Syndrome;☞Hermansky-Pudlak Syndrome; ☞Kostmann Disease; ☞Barth Syndrome; ☞Papillon-Lefèvre Syndrome; ☞Shwachman-Diamond Syndrome; ☞Cystic Fibrosis; IL-12 and IL-23 Receptor β1 Chain Deficiency; EVER1 Deficiency; STAT1 Deficiency; TLR3 Deficiency; CARD9 Deficiency; IRAK-4 Deficiency; ☞Aicardi-Goutieres Syndrome; ☞Familial Mediterranean Fever; ☞Muckle-Wells Syndrome; ☞Cherubism, C1q Deficiency; C2 Deficiency; Thrombomodulin Deficiency; Autoimmune Lymphoproliferative Syndrome; ☞Pulmonary Alveolar Proteinosis; Good Syndrome.

History

Evolving field of (new) primary immunodeficiencies in humans. Developed in 1970 under the auspices of the World Health Organization (WHO) following an initiative of Drs Fudenberg, Good, Hitzig, Kunkel, Roitt, Rosen, Rowe, Seligmann, and Soothill. Now monitored and updated biannually by the International Union of Immunological Societies.

Classification

See Table P-5. Primary Immunodeficiencies are classified into combined immunodeficiencies, combined immunodeficiencies with syndromic features, predominantly antibody deficiencies, diseases of immune dysregulation, defects of phagocyte number or function, defects in intrinsic and innate immunity, lists autoinflammatory diseases, complement deficiencies, and phenocopies of inborn errors of immunity.

TABLE P-5Classification of Primary Immunodeficiencies

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