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 Agammaglobulinaemia ................................................................................................................................................................ 4 Asplenia syndrome (Ivemark syndrome) ................................................................................................................................... 4 Ataxia telangiectasia (ATM) ......................................................................................................................................................... 4 Autoimmune lymphoproliferative syndrome (ALPS) ................................................................................................................ 4 APECED / APS1 with CMC - Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) .................. 5 Barth syndrome ............................................................................................................................................................................ 5 Bloom syndrome .......................................................................................................................................................................... 6 Cartilage hair hypoplasia (CHH) .................................................................................................................................................. 6 Chronic mucocutaneous candidiasis (CMC) ............................................................................................................................. 7 Complement component 2 deficiency ........................................................................................................................................ 7 Complement component 3 deficiency (C3) ................................................................................................................................ 7 CSR defects and HIGM syndromes ............................................................................................................................................. 8 Chediak Higashi syndrome (CHS) ............................................................................................................................................... 8 Chronic granulomatous disease (CGD) ...................................................................................................................................... 9 Clericuzio-type poikiloderma with neutropenia syndrome ....................................................................................................... 9 COHEN syndrome ........................................................................................................................................................................ 9 Combined immunodeficiency (CID) .......................................................................................................................................... 10 Common variable immunodeficiency disorders (CVID) .......................................................................................................... 10 Congenital neutropenia ............................................................................................................................................................. 11 Cyclic neutropenia ..................................................................................................................................................................... 11 Defects of TLR/NFkappa-B signalling ....................................................................................................................................... 11 Defects with susceptibility to mycobacterial infection (MSMD) ............................................................................................. 11 Deficiency of specific IgG (Specific antibody deficiency - SPAD) ......................................................................................... 12 DiGeorge syndrome ................................................................................................................................................................... 12 Dyskeratosis congenita ............................................................................................................................................................. 12 Factor D deficiency .................................................................................................................................................................... 12 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) ...................................................................................... 13 FOXP3 deficiency (IPEX) ............................................................................................................................................................ 13 Glycogen storage disease type 1b (GS1b) ............................................................................................................................... 13 ESID Registry - Working definitions for clinical diagnosis of PID July 18, 2016 page 1 of 25 Griscelli syndrome type 2 .......................................................................................................................................................... 14 Hereditary Angioedema (C1inh) ................................................................................................................................................ 14 Hermansky-Pudlak syndrome (type 2) ..................................................................................................................................... 14 HLA class I deficiency ................................................................................................................................................................ 15 HLA class II deficiency (MHC2) ................................................................................................................................................. 15 Hoyeraal-Hreidarsson syndrome .............................................................................................................................................. 15 Hyper IgE syndrome (HIES) ....................................................................................................................................................... 16 IgA with IgG subclass deficiency .............................................................................................................................................. 16 Immunodeficiency centromeric instability facial anomalies syndrome (ICF) ....................................................................... 16 IPEX-like disease ........................................................................................................................................................................ 17 Isolated IgG subclass deficiency .............................................................................................................................................. 17 Isolated congenital asplenia ...................................................................................................................................................... 17 Mannose-binding lectin deficiency (MBL) ................................................................................................................................ 17 Nijmegen breakage syndrome .................................................................................................................................................. 18 Omenn syndrome ....................................................................................................................................................................... 18 Partial albinism and immunodeficiency syndrome ................................................................................................................. 19 Properdin P factor complement deficiency (PFC) ................................................................................................................... 19 Schimke disease......................................................................................................................................................................... 19 Seckel syndrome ........................................................................................................................................................................ 20 Selective CD4 cell deficiency .................................................................................................................................................... 20 Selective IgA deficiency ............................................................................................................................................................. 20 Selective IgM deficiency ............................................................................................................................................................ 21 Severe combined immunodeficiency (SCID) ........................................................................................................................... 21 Shwachman-Diamond-syndrome .............................................................................................................................................
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