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ESID Registry – Working Definitions for Clinical Diagnosis of PID

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ESID Registry – Working Definitions for Clinical Diagnosis of PID ESID Registry – Working Definitions for Clinical Diagnosis of PID These criteria are only for patients with no genetic diagnosis*. *Exceptions: Atypical SCID, DiGeorge syndrome – a known genetic defect and confirmation of criteria is mandatory. Available entries (Please click on an entry to see the criteria.) Page Acquired angioedema .................................................................................................................................................................. 4 Agammaglobulinemia .................................................................................................................................................................. 4 Asplenia syndrome (Ivemark syndrome) ................................................................................................................................... 4 Ataxia telangiectasia (ATM) ......................................................................................................................................................... 4 Atypical Severe Combined Immunodeficiency (Atypical SCID) ............................................................................................... 5 Autoimmune lymphoproliferative syndrome (ALPS) ................................................................................................................ 5 APECED / APS1 with CMC - Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) .................. 5 Barth syndrome ............................................................................................................................................................................ 6 Bloom syndrome .......................................................................................................................................................................... 6 Cartilage hair hypoplasia (CHH) .................................................................................................................................................. 7 CD8 deficiency .............................................................................................................................................................................. 7 Chronic mucocutaneous candidiasis (CMC) ............................................................................................................................. 7 Complement component 1q deficiency (C1q deficiency) ......................................................................................................... 8 Complement component 1r deficiency (C1r deficiency) ........................................................................................................... 8 Complement component 1s deficiency (C1s deficiency) .......................................................................................................... 9 Complement component 2 deficiency ........................................................................................................................................ 9 Complement component 3 deficiency (C3) ................................................................................................................................ 9 Complement component 4 deficiency (C4A, C4B) .................................................................................................................... 9 Complement component 5 deficiency ...................................................................................................................................... 10 Complement component 6 deficiency ...................................................................................................................................... 10 Complement component 7 deficiency ...................................................................................................................................... 10 Complement component 8 deficiency (C8A, C8B, C8G) ......................................................................................................... 10 Complement component 9 deficiency ...................................................................................................................................... 11 CSR defects and HIGM syndrome ............................................................................................................................................. 11 Chediak Higashi syndrome (CHS) ............................................................................................................................................. 12 Chronic granulomatous disease (CGD) .................................................................................................................................... 12 Clericuzio-type poikiloderma with neutropenia syndrome ..................................................................................................... 12 COHEN syndrome ...................................................................................................................................................................... 13 Combined immunodeficiency (CID) .......................................................................................................................................... 13 ESID Registry - Working definitions for clinical diagnosis of IEI January 22, 2019 page 1 of 33 Common variable immunodeficiency disorders (CVID) .......................................................................................................... 13 Congenital neutropenia ............................................................................................................................................................. 14 Cyclic neutropenia ..................................................................................................................................................................... 14 Defects of TLR/NFkappa-B signalling ....................................................................................................................................... 14 Defects with susceptibility to mycobacterial infection (MSMD) ............................................................................................. 15 Deficiency of specific IgG (Specific antibody deficiency - SPAD) ......................................................................................... 15 DiGeorge syndrome ................................................................................................................................................................... 15 Dyskeratosis congenita ............................................................................................................................................................. 15 Early-onset inflammatory bowel disease ................................................................................................................................. 16 Early-onset multi-organ autoimmune disease ......................................................................................................................... 16 Epidermodysplasia verruciformis ............................................................................................................................................. 16 Factor B Deficiency .................................................................................................................................................................... 17 Factor D deficiency .................................................................................................................................................................... 17 Factor H Deficiency .................................................................................................................................................................... 17 Factor H Related Protein Deficiency ......................................................................................................................................... 17 Factor I Deficiency ...................................................................................................................................................................... 18 Ficolin 3 ....................................................................................................................................................................................... 18 Deficiency (FC3RN) .................................................................................................................................................................... 18 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) ...................................................................................... 18 FOXP3 deficiency (IPEX) ............................................................................................................................................................ 19 Glycogen storage disease type 1b (GS1b) ............................................................................................................................... 19 Griscelli syndrome type 2 .......................................................................................................................................................... 19 Hereditary Angioedema (C1inh) ................................................................................................................................................ 20 Herpetic encephalitis (HSE) ......................................................................................................................................................
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