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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) ................................................................................................................................... 5 Ataxia telangiectasia (ATM) ......................................................................................................................................................... 5 Atypical Severe Combined Immunodeficiency (Atypical SCID) ............................................................................................... 5 Autoimmune lymphoproliferative syndrome (ALPS) ................................................................................................................ 6 APECED / APS1 with CMC - Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) .................. 7 Barth syndrome ............................................................................................................................................................................ 8 Bloom syndrome .......................................................................................................................................................................... 9 Cartilage hair hypoplasia (CHH) .................................................................................................................................................. 9 CD8 deficiency ............................................................................................................................................................................ 10 Chronic mucocutaneous candidiasis (CMC) ........................................................................................................................... 11 Complement component 1q deficiency (C1q deficiency) ....................................................................................................... 12 Complement component 1r deficiency (C1r deficiency) ......................................................................................................... 12 Complement component 1s deficiency (C1s deficiency) ........................................................................................................ 13 Complement component 2 deficiency ...................................................................................................................................... 13 Complement component 3 deficiency (C3) .............................................................................................................................. 14 Complement component 4 deficiency (C4A, C4B) .................................................................................................................. 14 Complement component 5 deficiency ...................................................................................................................................... 15 Complement component 6 deficiency ...................................................................................................................................... 15 Complement component 7 deficiency ...................................................................................................................................... 15 Complement component 8 deficiency (C8A, C8B, C8G) ......................................................................................................... 16 Complement component 9 deficiency ...................................................................................................................................... 16 CSR defects and HIGM syndrome ............................................................................................................................................. 17 Chediak Higashi syndrome (CHS) ............................................................................................................................................. 18 Chronic granulomatous disease (CGD) .................................................................................................................................... 18 Clericuzio-type poikiloderma with neutropenia syndrome ..................................................................................................... 19 COHEN syndrome ...................................................................................................................................................................... 19 Combined immunodeficiency (CID) .......................................................................................................................................... 20 ESID Registry - Working definitions for clinical diagnosis of IEI November 2019 page 1 of 205 Common variable immunodeficiency disorders (CVID) .......................................................................................................... 21 Congenital neutropenia ............................................................................................................................................................. 22 Cyclic neutropenia ..................................................................................................................................................................... 23 Defects of TLR/NFkappa-B signaling ........................................................................................................................................ 23 Defects with susceptibility to mycobacterial infection (MSMD) ............................................................................................. 23 Deficiency of specific IgG (Specific antibody deficiency - SPAD) ......................................................................................... 24 DiGeorge syndrome ................................................................................................................................................................... 24 Dyskeratosis congenital ............................................................................................................................................................ 25 Early-onset inflammatory bowel disease ................................................................................................................................. 25 Early-onset multi-organ autoimmune disease ......................................................................................................................... 26 Epidermodysplasia verruciformis ............................................................................................................................................. 26 Factor B Deficiency .................................................................................................................................................................... 27 Factor D deficiency .................................................................................................................................................................... 27 Factor H Deficiency .................................................................................................................................................................... 28 Factor H Related Protein Deficiency ......................................................................................................................................... 28 Factor I Deficiency ...................................................................................................................................................................... 28 Ficolin 3 ....................................................................................................................................................................................... 29 Deficiency (FC3RN) .................................................................................................................................................................... 29 Familial hemophagocytic lymphohistiocytosis syndromes (FHLH) ...................................................................................... 29 FOXP3 deficiency (IPEX) ............................................................................................................................................................ 30 Glycogen storage disease type 1b (GS1b) ............................................................................................................................... 31 Griscelli syndrome type 2 .......................................................................................................................................................... 31 Hereditary Angioedema (C1inh) ................................................................................................................................................ 32 Herpetic encephalitis (HSE) ......................................................................................................................................................
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