AAAAI & ACAAI GUIDELINES Bundle (free trial)

5 Abbreviations 3MC, Carnevale-Mingarelli-Malpuech-Michels syndrome; ADA, Adenosine deaminase; AH50, Alternative pathway complement hemolysis 50%; ALPS, Autoimmune lymphoproliferative syndrome; APECED, Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy; APOL1, Apolipoprotein L1; AT, Ataxia-telangiectasia; BTK, Bruton tyrosine kinase; CAPS, Cryopyrin- associated periodic syndrome; CARD, Caspase recruitment domain; CASP10, Caspase 10; CASP8, Caspase 8; CBC, Complete blood count; CD40L, CD40 ligand; CFHR, Complement factor H–related protein; CGD, Chronic granulomatous disease; CH50, Classical pathway complement hemolysis 50%; CHARGE, Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies; CHH, Cartilage-hair hypoplasia; CHS, Chediak-Higashi syndrome; CID, Combined immunodeficiency; CINCA, Chronic infantile neurocutaneous articular; CLEC7A, C-type lectin domain family 7, member A; CMCC, Chronic mucocutaneous candidiasis; CMV, Cytomegalovirus; CNS, Central nervous system; COLEC11, Collectin subfamily member 11; CRMO, Chronic recurrent multifocal osteomyelitis; CVID, common variable immunodeficiency; DGS, DiGeorge syndrome; DHR, Dihydrorhodamine 123; DIRA, Deficiency of IL-1 receptor antagonist; DITRA, Deficiency of IL-36 receptor antagonist; DKC, Dyskeratosis congenita; DOCK8, Dedicator of cytokinesis 8; EBV, Epstein-Barr virus; EV, Epidermodysplasia verruciformis; FCAS, Familial cold autoinflammatory syndrome; FHL, Familial hemophagocytic lymphohistiocytosis; FMF, Familial Mediterranean fever; FOXP3, Forkhead box protein 3; G6PDH, Glucose-6-phosphate dehydrogenase; G-CSF, Granulocyte colony-stimulating factor; GM-CSF, Granulocyte-macrophage colony-stimulating factor; GS, Griscelli syndrome; HIDS, Hyper-IgD syndrome; HIES, Hyper-IgE syndrome; HIM, Hyper-IgM syndrome; HLH, Hemophagocytic lymphohistiocytosis; HPS, Hermansky-Pudlak syndrome; HPV, Human papilloma virus; HSCT, Hematopoietic stem cell therapy; HSE, Herpes simplex encephalitis; HSV, Herpes simplex virus; HUS, Hemolytic uremic syndrome; ICA, Isolated congenital asplenia; ICD4L, Idiopathic CD4 lymphopenia; ICF, Immunodeficiency, centromeric instability, and abnormal facies; IFN-γ, Interferon gamma; IFNGR, IFN-γ receptor; IGGSD, IgG subclass deficiency; IKBA, Inhibitor of kB α chain; IKBKG, Inhibitor of kB kinase γ chain; IL17RA, IL-17 receptor α chain gene; IL2RG, Interleukin 2 receptor subunit gamma gene; IPEX, Immunodeficiency, polyendocrinopathy, X-linked; IRAK, IL-1 receptor–associated kinase; ITCH, Itchy E3 ubiquitin protein ligase; ITK, IL-2–inducible T-cell kinase; IVIG, Intravenous immunoglobulin; LAD, Leukocyte adhesion deficiency; LIG4, DNA ligase IV; MBL, Mannose-binding lectin; MCM4, Minichromosome maintenance complex component 4; MHC, Major histocompatibility complex; MIA, Multiple intestinal atresia; MSMD, Mendelian susceptibility to mycobacterial disease; MST1, Macrophage stimulating 1; MTHFD1, Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1; MTOR, Mammalian target of rapamycin; MVK, Mevalonate kinase; MWS, Muckle-Wells syndrome; MyD88, Myeloid differentiation primary response 88; NBS, Nijmegen breakage syndrome; NEMO, Nuclear factor κB essential modulator; NF-κB, Nuclear factor κB; NK, Natural killer; NL, Normal; NOD2, Nucleotide-binding oligomerization domain–containing protein 2; NOMID, Neonatal-onset multisystem inflammatory disorder; OS, Omenn syndrome; PAP, Pulmonary alveolar proteinosis; PAPA, Pyogenic arthritis, pyoderma gangrenosum, and acne; PCP, Pneumocystis jirovecii pneumonia; PEG, Polyethylene glycol; PFAPA, Periodic fever with aphthous stomatitis, pharyngitis, and adenitis; PGM3, Phosphoglycerate mutase 3; PHA, Phytohemagglutinin; PIDD, primary immunodeficiency disease; PLAID, Phospholipase Cγ2–associated antibody deficiency and immune dysregulation; PMS2, Postmeiotic segregation increased 2; PSMB8, Proteasome catalytic subunit b type 8; PSTPIP1, Proline-serine-threonine phosphatase interacting protein 1; RAG, Recombination-activating gene; RBCK1, RanBP-type and C3HC4-type zinc finger containing 1; RIDDLE, Radiosensitivity, immunodeficiency, dysmorphic features and difficult learning ; SAD, Specific antibody deficiency; SAM, Severe dermatitis, allergy, metabolic wasting ; SCID, Severe combined immunodeficiency; SCN, Severe congenital neutropenia; SGD, Specific granule deficiency; SH3BP2, SH3-domain binding protein 2; SIGAD, Selective IgA deficiency; SLC46A1, Solute carrier family 46; SPENCD, Spondyloenchondrodysplasia with immune dysregulation; SS, Summary statement; STAT, Signal transducer and activator of transcription; TACI, Transmembrane activator and CAML interactor; TBK1, TANK-binding kinase 1; TCR, T-cell receptor; THI, Transient hypogammaglobulinemia of infancy; TICAM1, Toll-like receptor adaptor molecule 1; TLR, Toll-like receptor; TMC6, transmembrane channel-like 6; TMEM173, Transmembrane protein 173; TNFRSF, TNF receptor superfamily; TNFSF, TNF superfamily; TRAF3, TNF receptor–associated factor 3; TRAPS, TNF receptor–associated periodic syndrome; TREC, T-cell receptor excision circle; Treg, Regulatory T; VODI, Hepatic veno-occlusive disease with immunodeficiency; WAS, Wiskott-Aldrich syndrome; WBC, White blood cell; WHIM, Warts, hypogammaglobulinemia, immunodeficiency, myelokathexis; XLP, X-linked lymphoproliferative disease

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