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UKPIN Registry Login

A login and password obtained from the UKPID Registry Co-ordnator are necessary to access the database but UKPIN does not ask for user login information, passwords or any other personal login information by email, telephone or any other way. If you have received anything of this nature, please delete it immediately and inform the database administration group via telephone or e-mail.

It is the responsibility of the attending physicians and their documenting team to ensure that data is entered accurately and that their user ID and passwords are kept undisclosed.

UKPIN is not responsible and UKPIN does not guarantee completeness or accuracy of the results obtained from the use of this database.

• Predominantly antibody disorders
  • Agammaglobulinemias
  • Hypogammaglobulinemias
    • Common variable immunodeficiency (CVID)
    • Selective IgA deficiency (IGAD)
    • Isolated IgG subclass deficiency
    • IgA with IgG subclass deficiency (normal IgG concentrations and B cell numbers)
    • Deficiency of specific IgG
    • Selective IgM deficiency
    • Transient hypogammaglobulinemia of infancy
    • Secondary hypogammaglobulinemia
    • Immunoglobulin chain deficiencies
    • Other immunoglobulin gene deletions
    • Thymoma with immunodeficiency
    • Transcobalamine II deficiency
    • Dystrophia myotonica type2 (PROMM/ZNF9)
    • Secondary selective IgA deficiency
    • Other Hypogammaglobulinemias
  • Defects of class switch recombination (CSR)/Hyper IgM syndromes (HIGM)
    • CD40 antigen deficiency (TNFRSF5)
    • CD40 antigen ligand deficiency (CD154)
    • Activation-induced cytidine deaminase deficiency (AID)
    • Uracil-DNA glycosylase deficiency (UNG)
    • PMS2 deficiency (HIGM phenotype)
    • CSR defects and HIGM syndromes with unknown genetic cause
• Predominantly T-cell deficiencies
  • T-B- Severe combined immunodeficiency (SCID)
  • T-B+ Severe combined immunodeficiency (SCID)
  • Omenn syndrome
  • Combined immunodeficiency (CID)
    • Atypical SCID (mutation in SCID-causing gene, onset>1 year (preliminary definition)
    • DNA-ligase 4 deficiency (LIG4) (SCID phenotype can be documented in T-B-SCID subregistry)
    • Calcium channel dysfunction (ORAI1 or STIM1 deficiency)
    • Caspase 8 deficiency
    • Cernunnos/XLF deficiency
    • CD3 gamma deficiency
    • DOCK8 deficiency (HIES phenotype can be documented in HIES subregistry)
    • Interleukin 2 receptor alpha deficiency (CD25) (IPEX phenotype can be documented in IPEX subregistry)
    • ITK deficiency (HLH phenotype can be documented in HLH subcategory)
    • Nucleoside phosphorylase deficiency (PNP)
    • Signal transducer and activator of transcription 5 deficiency (STAT5)
  • CD8 antigen alpha polypeptide deficiency (CD8A)
  • Selective CD4 cell deficiency
  • HLA class I deficiency
  • HLA class II deficiency
  • Zeta-chain-associated protein kinase deficiency (ZAP70)
  • Winged-helix nude deficiency (FOXN1)
  • Other unclassified T-cell disorders
    • Secondary T-cell deficiency
    • Other unclassified T-cell disorders
• Phagocytic disorders
  • Severe congenital neutropenia (SCN)
  • Glycogen storage disease type 1b (GS1b)
  • Cyclic neutropenia
  • Leukocyte adhesion deficiency (LAD)
  • RAS-related C3 Bolutinum toxin substrate 2 deficiency (RAC2)
  • Actin beta deficiency
  • Localised juvenile periodontitis
  • Papillon-Lefevre syndrome
  • Specific granule defect - CCAAT/enhancer binding protein epsilon deficiency (CEBPE)
  • Shwachman-Diamond syndrome (SBDS)
  • Chronic granulomatous disease (CGD)
  • Barth syndrome
  • COHEN syndrome
  • Clericuzio-type poikiloderma with neutropenia syndrome
  • Partial albinism and immunodeficiency syndrome (HLH phenotype can be documented in HLH subcategory)
  • Myeloperoxidase deficiency (MPO)
  • Neutrophil glucose-6-phosphate dehydrogenase (G6PD)
  • Defects with susceptibility to mycobacterial infection
  • Other phagocytic disorders
• Complement deficiencies
  • Complement deficiencies
    • Complement component 1 deficiency (C1)
    • Complement component 2 deficiency (C2)
    • Complement component 3 deficiency (C3)
    • Complement component 4 deficiency (C4)
    • Complement component 5 deficiency (C5)
    • Complement component 6 deficiency (C6)
    • Complement component 7 deficiency (C7)
    • Complement component 8 deficiency (C8)
    • Complement component 9 deficiency (C9)
    • Properdin P factor complement deficiency (PFC)
    • Complement factor B deficiency
    • Factor D deficiency (CFD)
    • I Factor deficiency (IF) (CFI)
    • Complement factor H deficiency (CFH)
    • Hereditary Angioedema (C1 inhibitor, C1inh)
    • C3b inactivator deficiency
    • Mannan-binding lectin serine protease 2 deficiency (MASP2)
    • Decay-accelerating factor for complement deficiency (DAF CD55)
    • CD59 antigen P18-20 deficiency (CD59)
  • Mannose-binding lectin (MBL) deficiency
• Other well defined PIDs
  • Hyper IgE syndromes (HIES)
  • DiGeorge syndrome (Del 22q11.2, DGS)
  • Wiskott-Aldrich syndrome (WAS)
    • Wiskott-Aldrich syndrome (WAS)
    • X-linked thrombocytopenia (XLT) with mutations in WASP
  • DNA-breakage disorders
    • Ataxia telangiectasia (ATM)
    • AT-like disorder
    • Nijmegen breakage syndrome (NBS1)
    • Bloom syndrome (RECQ2)
    • Fanconi anemia
    • Seckel syndrome
    • DNA-ligase 1, ATP-dependent deficiency (LIG1)
    • Immunodeficiency, centromeric instability, facial anomalies syndrome (ICF)
    • Post-Meiotic Segregation 2 (PMS2) deficiency (HIGM phenotype can be documented in CSR subcategory)
    • Other DNA-breakage disorder
  • Dyskaterosis congenita
    • Dyskaterosis congenita
    • Hoyeraal-Hreidarsson syndrome
  • CHARGE syndrome
  • Osteopetrosis
  • Cartilage hair hypoplasia
  • Schimke disease
  • Fc receptor deficiencies
  • Netherton syndrome
  • Asplenia syndrome
    • Isolated congenital asplenia
    • Asplenia syndrome (Ivemark syndrome)
  • Trichohepatoenteric syndrome (Giraud syndrome)
  • Hepatic venoocclusive disease with immunodeficiency (VODI)
  • Other syndromic PID
• Autoimmune and immunedysregulation syndromes
  • Autoimmune lymphoproliferative syndrome (ALPS)
    • Autoimmune lymphoproliferative syndrome (ALPS)
    • Ras associated lymphoproliferative disease (RALD)
    • ALPS (PID-NET study subregistry) (requires specific login)
  • Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED)
  • Hemophagocytic Lymphohistiocytosis (HLH)
    • Familial hemophagocytic lymphohistiocytosis syndromes (FHLH)
    • Hermansky-Pudlak syndrome type II
    • Griscelli syndrome type II
    • Chediak Higashi Syndrome (CHS)
    • X-linked lymphoproliferative syndrome (XLP)
    • ITK deficiency
  • IPEX
    • FOXP3 deficiency (IPEX)
    • Interleukin 2 receptor alpha deficiency (CD25)
    • IPEX-like disease
  • Early-onset inflammatory bowel disease
  • Other autoimmune and immundysregulation syndromes
• Defects in innate immunity
  • Defects of TLR/NFkappa-B signalling
  • Warts, hypogammaglobulinemia, infections and myelokathexis (WHIM)
  • Epidermodysplasia verruciformis
  • Chronic mucocutaneous candidiasis (CMC)
• Autoinflammatory syndromes
  • Familial mediterranean fever
  • Familial periodic fever
    • TNF receptor associated periodic syndrome (TRAPS)
    • Hyper IgD syndrome (MVK)
  • Muckle-Wells syndrome
  • Familial cold autoinflammatory syndrome
  • CINCA syndrome
  • Proline/serine/threonine phosphatase-interacting protein 1 deficiency (PSTPIP1)
  • Caspase recruitment domain-containing protein 15 deficiency (CARD15)
  • Periodic fever aphtous stomatitis, pharyngitis and adenopathy (PFAPA)
• Unclassified immunodeficiencies
• Main registry (Live Statistics, Center administration)