Reference Articles
Agammaglobulinemia
- BLNK.pdf
- Bruton Pediatrics 1952.pdf
- Btk.pdf
- Igalpha.pdf
- Igbeta_XLA_JEM_2007.pdf
- Tsukada Cell 1993.pdf
- Vetrie Nature 1993.pdf
- Yel NEJM 1996.pdf
- lambda5.pdf
- muheavychain.pdf
- xla - report on US registry of 201 patients.pdf
ALPS
- ALPS with somatic fas mutations.pdf
- Autoimmune lymphoproliferative syndrome.pdf
- CASP10.pdf
- CASP8.pdf
- Chun Nature 2002.pdf
- FAS.pdf
- FASL.pdf
- FASL_ii.pdf
- FASL_iii.pdf
- Fisher Cell 1995.pdf
- Flow.pdf
- Holzelova NEJM 2004.pdf
- NRAS mutation causes a human autoimmune lymphoproliferative syndrome.pdf
- Oliveira Blood 2010.pdf
- Oliveira PNAS 2007.pdf
- Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome - NIH 2009 Workshop - Blood 2010.pdf
- Wang Cell 1993.pdf
APECED
CD4 lymphopenia
CGD
Complement
- Complement; a unique innate immune sensor for danger signals.pdf
- Complement; central to innate immunity and bridging to adaptive responses.pdf
- Genetic screening in haemolytic uraemic syndrome.pdf
- Zipfel.pdf
- partial Factor I def.pdf
CVID
- A Rose is a Rose is a Rose but CVID is Not CVID - Common Variable Immune Deficiency (CVID) What do we Know in 2011.pdf
- Bates JACI 2004.pdf
- Castigli Nat Gen 2005.pdf
- Park Clin Immunol 2009.pdf
- Warnatz Blood 2002.pdf
- Wehr Blood 2008.pdf
- Wheat JEM 2005.pdf
- Zhang JACI 2007.pdf
CVID_Def.IgA
- CVID and autoimmunity.pdf
- CVID; clinical and immunological features of 248 patients.pdf
- Cd19.pdf
- ICOS.pdf
- Monogenetic defects in common variable immunodeficiency what we can learn about terminal B cell differentiation.pdf
- Physiology of IgA and IgA deficiency.pdf
- TACI is mutant in common variable immunodeficiency and IgA deficiency.pdf
- TACI.pdf
- TACI_ii.pdf
- TACI_iii.pdf
- TACItly changing tunes.pdf
DiGeorge
- 22q11 Sullivan.pdf
- Lancet VCFS CH22q published.pdf
- Postnatal thymus transplantation with immunosuppression as treatment for Digeorge syndrome.pdf
- Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome.pdf
DNA repair defects
- ATR_ATM.pdf
- Artemis.pdf
- Bloom.pdf
- Cernunnos.pdf
- Immunodeficiency and infections in Ataxia telangiectasia.pdf
- LIG4.pdf
- Nijmegen.pdf
- hMRE11.pdf
Griscelli_Chediak
HLH
- Munc-13-4.pdf
- Munc13-4_ii.pdf
- Perforin.pdf
- Primary Hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.pdf
- Syntaxin11.pdf
- hemophagocytic lymphohistiocytosis.pdf
HSCT
Hyper-IgE
- Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.pdf
- Hyper IgE Freeman and Holland.pdf
- HyperIgE.pdf
- IgETh17.pdf
- STAT3 mutations in the hyper-IgE syndrome.pdf
- TYK2.pdf
Hyper-IgM
- CLINIC~1.PDF
- Hyper immunoglobulin M syndrome due to CD40 deficiency.pdf
- Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects.pdf
- The Hyper IgM syndrome - an evolving story.pdf
- The X-linked hyper-IgM syndrome; clinical and immunologic features of 79 patients.pdf
IFN-gamma_IL-12
- Anti-IFN.pdf
- Defects in the Interferon-y and interleukin-12 pathways.pdf
- IFNGR1.pdf
- IFNGR1_ii.pdf
- IFNGR2.pdf
- IL12B.pdf
- IL12RB1.pdf
- IL12RB1_ii.pdf
- IL12RB1_iii.pdf
- MSMD IDs.pdf
- Paracoccidioides brasiliensis Disseminated Disease in CD212 deficiency.pdf
- Partial_rec_STAT1_JCI_2009.pdf
- STAT1.pdf
- STAT1_ii.pdf
- STAT1_iii.pdf
Innate Immunity
- Deficient natural killer cell cytotoxicity in patients with IKKy-NEMO mutations - JCI 2002.pdf
- IRAK 4 deficiency - Immun Res 2007.pdf
- Immunodeficiency and Genetic Defects of Pattern-Recognition Receptors- NEJM 2011.pdf
- Perez de Diego Cell 2010.pdf
- Picard Science 2003.pdf
- The Role of Toll-Like Receptor Signaling in Human Immunodeficiencies - Clin Rev Allergy Immunol 2010.pdf
- Zhang Science 2007.pdf
- von Bernuth Science 2008.pdf
IPEX
Lab
- Flow_PID_2009_Oliveira.pdf
- Labs providing genetic testing for PIDD.pdf
- Role of FCS in Dx and monitoring of PID.pdf
LAD
LAD I-III
Miscellaneous
- CHARGE_Pdiatrics_2009.pdf
- Consensus HAE 2010.pdf
- Diagnostic criteria for primary immunodeficiencies.pdf
- Enteroviral infections in primary immunodeficiency; a survey of morbidity and mortality.pdf
- From idiopathic infections to novel PIDs.pdf
- Functional and molecular evaluation of lymphocytes.pdf
- Fungal infections in PIDs.pdf
- IVIG Product characteristics.pdf
- Immunity to microbes-lessons from PIDs.pdf
- Immunodeficiencies with autoimmune consequences.pdf
- Immunological and genetic bases of new PIDs.pdf
- Immunology in natura-clinical epidemiological and evolutionary genetics of infections.pdf
- Liston.pdf
- Long-term follow-up of PIDs.pdf
- Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies; report of the european experience 1968-99.pdf
- Molecular basis of immunodeficiency.pdf
- Mutations in dyskeratosis congenital.pdf
- Novel PID revealed by the investigation of pediatric infections.pdf
- PID and autoimmunity Coutinho and Carneiro-Sampaio.pdf
- PID registries - Knerr and Grimbacher.pdf
- PIDD; dissectors of the immune system.pdf
- PIDs update 2007.pdf
- Patient centered screening for PIDs.pdf
- Primary immunodeficiency diseases; an update.pdf
- PulmNTM_RCCM_2009.pdf
- Regulatory T cells Torgerson and Ochs.pdf
- SCT Mazzaloni et al.pdf
- Tolerance and autoimmunity.pdf
- WHIM_2009_JACI.pdf
- sp110.pdf
Neutropenias
- Congenital_neutropenias_ARI_2009.pdf
- ELA2.pdf
- GCSF.pdf
- GFI1.pdf
- HAX1.pdf
- Innate Immunity and PID.pdf
- Neutropenia_G6PC3_Botzug_NEJM_2009.pdf
- p14.pdf
NF-kB_Toll_Type I IFN
- Herpes simplex virus encephalitis in human UNC-93B deficiency.pdf
- Human PIDs of type I IFNs.pdf
- Human disease resulting from gene mutations that interfere with appropriate nuclear factor kB activation.pdf
- IKBalpha.pdf
- IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.pdf
- IRAk4.pdf
- MyD88 deficiency.pdf
- NEMO JACI.pdf
- NEMO.pdf
- Pyogenic bacterial infections in humans with IRAK-4 deficiency.pdf
- TLR3 deficiency in patients with herpes simplex encephalitis.pdf
NK Cells
- 2002-NKdeficiencyReviewMI.pdf
- 2006-NK deficiency review.pdf
- Bigley NK deficiency JEM 2011.pdf
- Casanova NK chr8 deficiency.pdf
- Vinh blood 2009.pdf
Other
- Bolze Am J Hum Gen 2010.pdf
- IPEX and FoxP3 Clinical Dev Immunology 2007 .pdf
- Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes - JACI 2009.pdf
- Pathogenesis of Hyper IgE Syndrome - Clinic Rev Allergy Immuno 2009.pdf
- RAC2 Deficiency - Gu J Biol Chem 2001.pdf
- RAC2 Deficiency - Williams Blood 2000.pdf
SCID
- Aiuti NEJM 2009.pdf
- Cavazzana-Calvo Science 2000.pdf
- Chan Science 1994.pdf
- Coronin1_SCID_2008.pdf
- DNAPKC_SCID-JCI_2009.pdf
- Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe t-cell immunodeficiency.pdf
- Macchi Nature 1995.pdf
- Moshous Cell 2001.pdf
- Muller Blood 2001.pdf
- ORAI1.pdf
- Ommen_JACI_2009.pdf
- Puel Nature 1998.pdf
- Reticular_dysgenesis_ADK2_2009.pdf
- Roberts Blood 2007.pdf
- Roifman Blood 2000.pdf
- Russell Science 1995.pdf
- Schwarz Science 1996.pdf
- Tchilian JI 2001.pdf
- Villartay_et_alpdf.pdf
WAS
- An international study examining therapeutic options used in treatment of wiskott aldrich syndrome.pdf
- Autoimmunity in wiskott aldrich syndrome; risk factors, clinical features, and outcomes in a single center cohort of 55 patients.pdf
- Long-term outcome following hematopoietic stell cell transplantation in wiskott aldrich syndrome.pdf
- The wiskott aldrich syndrome.pdf
- WAS Notarangelo and Ochs.pdf
- WASP.pdf
- WASP_ii.pdf
- Wiskott Aldrich syndrome protein and platelets.pdf
- XLT blood.pdf
- curr opinion hematol Gigi Hans Alberts.pdf
- review Nature immunol.pdf
XLP
- A rapid FCS screening test for XLP-2.pdf
- Allogeneic stem cell transplantation in x-linked lymphoproliferative disease; two cases in one family and review of the literature.pdf
- Lymphocyte vasculitis in the CNS in XLP patients without EBV infection.pdf
- Molecular and cellular pathogenesis of x-linked lymphoproliferative disease.pdf
- Patients with XLP-2 have normal invariant NKT cells.pdf
- Rigaud Nature 2006.pdf
- SH2D1A.pdf
- SH2D1A_ii.pdf
- SH2D1A_iii.pdf
- X-linked lymphoproliferative disease.pdf
- XIAP.pdf
- XLP review blood 2010.pdf
