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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 Agammaglobulinaemia ................................................................................................................................................................ 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) .................................................................................................................................................. 6 CD8 deficiency .............................................................................................................................................................................. 7 Chronic mucocutaneous candidiasis (CMC) ............................................................................................................................. 7 Complement component 2 deficiency ........................................................................................................................................ 8 Complement component 3 deficiency (C3) ................................................................................................................................ 8 CSR defects and HIGM syndromes ............................................................................................................................................. 8 Chediak Higashi syndrome (CHS) ............................................................................................................................................... 9 Chronic granulomatous disease (CGD) ...................................................................................................................................... 9 Clericuzio-type poikiloderma with neutropenia syndrome ....................................................................................................... 9 COHEN syndrome ...................................................................................................................................................................... 10 Combined immunodeficiency (CID) .......................................................................................................................................... 10 Common variable immunodeficiency disorders (CVID) .......................................................................................................... 11 Congenital neutropenia ............................................................................................................................................................. 11 Cyclic neutropenia ..................................................................................................................................................................... 11 Defects of TLR/NFkappa-B signalling ....................................................................................................................................... 12 Defects with susceptibility to mycobacterial infection (MSMD) ............................................................................................. 12 Deficiency of specific IgG (Specific antibody deficiency - SPAD) ......................................................................................... 12 DiGeorge syndrome ................................................................................................................................................................... 12 Dyskeratosis congenita ............................................................................................................................................................. 12 Early-onset inflammatory bowel disease ................................................................................................................................. 13 ESID Registry - Working definitions for clinical diagnosis of PID April, 25, 2017 page 1 of 28 Early-onset multi-organ autoimmune disease ......................................................................................................................... 13 Epidermodysplasia verruciformis ............................................................................................................................................. 13 Factor D deficiency .................................................................................................................................................................... 14 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) ...................................................................................... 14 FOXP3 deficiency (IPEX) ............................................................................................................................................................ 14 Glycogen storage disease type 1b (GS1b) ............................................................................................................................... 15 Griscelli syndrome type 2 .......................................................................................................................................................... 15 Hereditary Angioedema (C1inh) ................................................................................................................................................ 15 Hermansky-Pudlak syndrome (type 2) ..................................................................................................................................... 16 HLA class I deficiency ................................................................................................................................................................ 16 HLA class II deficiency (MHC2) ................................................................................................................................................. 16 Hoyeraal-Hreidarsson syndrome .............................................................................................................................................. 17 Hyper IgE syndrome (HIES) ....................................................................................................................................................... 17 IgA with IgG subclass deficiency .............................................................................................................................................. 17 Immunodeficiency centromeric instability facial anomalies syndrome (ICF) ....................................................................... 18 IPEX-like disease ........................................................................................................................................................................ 18 Isolated IgG subclass deficiency .............................................................................................................................................. 18 Isolated congenital asplenia ...................................................................................................................................................... 19 Mannose-binding lectin deficiency (MBL) ................................................................................................................................ 19 Netherton syndrome .................................................................................................................................................................. 19 Nijmegen breakage syndrome .................................................................................................................................................. 20 Omenn syndrome ....................................................................................................................................................................... 20 Papillon-Lefevre syndrome ....................................................................................................................................................... 20 Partial albinism and immunodeficiency syndrome ................................................................................................................
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