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© 2010 Universitair Ziekenhuis Gent
Primary Immune deficiencies :
not only a disease for pediatricians
Filomeen Haerynck Dienst Kinderlongziekten, infectieziekten en – immuunstoornissen Prinses Elisabeth Kinderziekenhuis UZ Gent BHS 8-11-2014
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Immunodeficiency
Inflammation
Malignancy Autoimmunity
Infection
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Bach JF. NEJM 2002; 347:911
The focus in clinical immunology has shifted
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Immunity against virusses
NEJM 2000 :343,2
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8 8 © 2010 Universitair Ziekenhuis Gent
Immunity against bacteria
NEJM 2000 :343,2
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Organism Ab defect CID Phagocytic defect Complement defect
Virus Enterovirus All (>CMV,RSV,EBV,parainfl.)
No No
Bacterie Strept. Pneum.,H. Influenza,P.aeruginosa,St.Aureus,N. Mening, Mycoplasma pn
= Ab defect AND Salmonella spec, Listeria, enteric flora
S.Aureus P.Aeruginosa Nocardia asteroides S. typhi
= Ab defect ( > N. Mening )(MAC)
Mycobacteria No Nontuberculous Nontuberculous No
Fungi No Candida spec, Aspergillus spec, Cryptococcus, Histoplasmosis
Candida spec, Aspergillus spec
No
Protozoa Giardia Lamblia Pneumocystis jjiroveci, Toxoplasma gondii, Cryptosporidiul
No No
Pathogen → PID
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PID prevalence : 1/2000- 1/10 000 - 500 000
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www.bpidg.be
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£
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Huseyn, 6m - WBC : 12 210 / mm3 N: 9438 L: 1590 Mono: 1155 Eosino: 27 Baso: 0 - Lymphocytes: - T lympho ( CD 3 + ) : < 1% - Th cell ( CD4+ ): < 1% - Ts cell ( CD8 + ): < 1% - B lympho ( CD19 ): 92 % ( 1462/µl ) - CD 56+ /CD 3 - ( NK cel ): <1 % - Tot protein : normal ↓ gammaglob ( 0,9 % ), ↑ alfa2 ( 19,3 % ), ↑ alfa1 ( 7,8 % ) - IgG < 50 mg/dl - IgA < 4 mg/dl - IgM <20 mg/dl ! DX : T – B + NK – SCID → Common gamma chain defect ! Haplo- identical stemcellTx (mother) without conditioning
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T cell deficiency ! WBC , differentiation ! Lymphocytes : < 6m: >3000/µl (cave : maternal engrafment) > 6 m: >2000/ µl • Lymphocyte typing: T cells ( > 60% lymfo ) CD3+ CD3+/CD4+ CD3+/CD8+ T cell maturation : CD3+/CD4+/CD45RA CD3+/CD4+/CD45RO • Lymphocytes profileration against mitogenes, Ag ( bv Tetanos,
Candida )
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£
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Ricardo, 16 years
! 6 m: rec RTI with monthly fever needing AB ! adenotomia, TTD ! 2 – 4 y : rec. pneumoniae R/ IV AB ! Chronic cough
! Familial : father: chronische sinusitis, mother : eczeem
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Ricardo, 12 y
! WBC : 7910 /µl ( N: 5140 L: 2057 mono: 601 eosino 87 ) ! CD3+: 70% (1440 / µl) CD3+/CD4+: 49% (1008 / µl ) CD3+/CD8+: 19% (390 / µl) CD19+: 20 % (411 / µl) ! IgG: 200 mg/dl IgG2: 47 mg/dl IgG3:21 mg/dl IgM < 18 mg/dl
IgA: < 23 mg/dl IgE:< 4 kU/l ! Pneumococcal antibodies ( after vaccin ):< 3 a.e ! Tetanos Antibody : < 0,01 IU/ml ! Lymphocyte proliferation test against mitogenes: normal
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DIFFERENTIAL DIAGNOSIS ??
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Ricardo, 16 y
! Treatment : IVIG 1*/month (400 mg/kg/dose)
! Persistent fever: IVIG 1*/3 weeks: improvement
! Current: SCIG 1*/week (100-150 mg/kg/dosis)
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Common Variabel Immune deficiency
! - 1/ 25 000 – 1/ 100 000 - Hypogamma, IgA (subclasses), IgM - normal B en T cells, decreased B cell maturation - 6 -10 y and 26 – 40 y - lymphoid hyperplasia (DD: malignancy) - GE: colitis (Crohn like) – granulomata - auto-immune cytopenia, auto-immune hepatitis è Combined immune deficiency è stem cell transplantation
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Lab tests ! WBC, differentation, Hb, Platelets ! Lymphocytes - subtyping : B ( CD 19+ ) cells T ( CD3+ ) cells Th ( CD3/CD4 )/ Ts ( CD3/CD8 ) Nk cells ( CD3-/CD56 + ) ! Tot IgG, IgA, IgM, IgE (age matched references!) ! IgG subclasses > 1 j ! Total protein, electroforesis ! Viral serology ( immune response VZV,MBR,… ) ! Viral PCR – HIV Al / PCR ! Viral en bacterial cultures
SSC
CD
14 (M
y4)-P
E
granulocytes
monocytes
lymphocytes
monocytes
granulo-cytes
T-lympho-cytes
CD
19 (L
eu-1
2)-P
E
CD
16 (L
eu-1
1b) e
n C
D56
(Leu
-19)
-PE
T-lympho-cytes
NK-cells
gated on lymphocytesgated on lymphocytes
CD3 (Leu-4)-FITCCD3 (Leu-4)-FITC
FSC CD15 (CLBCD15)-FITC
B-lymphocytes
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Humoral deficiency ! Cellular : - B cells ( CD19 + ) - B memory cells ( CD19+/CD27+/IgD- ) ! - Polysaccharide Ab response - Pneumococcal Antibody response - basal Ab – pneumo 23 vaccinations - 1 month later: Ab response
- protein Ab response: immune response against tetanos
Patient 1 Patient 2
Before Serotype 8 Serotype 9N
9 0,5 11 0,8
12 0,6 6 0,5
U/ml mg/l U/ml mg/l
After Serotype 8 Serotype 9N
133 6,9 41 3,2
12 0,6 7 0,6
U/ml mg/l U/ml mg/l
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I. Primary Immune deficiencies Ø Agamma, Hypogamma, IgG subclass deficiencies,
congenital antipolysacharide antibody deficiency
Ø AND recurrent infections!
Ø Approval of BPIDG member
II. Secundary Immune deficiencies (protein loosing, drugs (not steroids!) )
Ø Hypogamma (adults < 7,5 g/l)
Ø AND recurrent infections!
Indication for IVIG/ SCIG
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SCIG I. Hizentra 20% liquid preparation 5 ml= 1 g 10ml= 2g 20 ml= 4g 50ml=10g II. Gammanorm 16%
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SCIG
Adapted from CSL Behring
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Selective IgA deficiency
! 1/300-1/500 ! B cells → IgA – secreting plasma cells → ↓ serum IgA ! Normal IgG and IgM ! Gastrointestinal disease and sIgA def < CVID (IgM compensation) ! >> asymptomatic
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£
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Auto-immune lymphoproliferative syndrome ( ALPS )
! Canale-Smith syndrome ! ↑↑ nonmalignant lymphoid cells, ↑ CD3+/CD4-/CD8- T CR αβ
cells ! ↓ lymphocyte apoptosis ( Fas- FasL ) splenomegalie/adenopathie ! Auto-immune cytopenia ! Auto-immune hepatitis
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Daan, 9 m Ø recurrent infections, failure to thrive and chronic diarrhea Ø Admission: irritability, fever, hepatosplenomegaly and
ascites Patient References
- Haemoglobin
- Thrombocytes
- Ferritin
- Fibrinogen - Soluble CD25
- HLA DR expression on CD3+/CD8+
- Bone marrow
6,9 g/dl
14 000 /µL
1228 µg/L
86 mg/dL
24271 pg/mL
63%
normal
11-14
217-497 * 10“
7-142
200-400
857- 2916
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Differential diagnosis????
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Daan, 9 m Patient References
- Haemoglobin
- Thrombocytes
- Ferritin
- Fibrinogen - Soluble CD25
- HLA DR expression on CD3+/CD8+
- Bone marrow
- CD107a expression on NK cells
- non stimulated - stimulated - Perforin expression
6,9 g/dl
14 000 /µL
1228 µg/L
86 mg/dL
24271 pg/mL
63%
normal
3,34% 4,31%
99%
11-14
217-497 * 10“
7-142
200-400
857- 2916
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! 1. Familial disease/known genetic defect ! 2. Clinical and laboratory criteria (5/8 criteria)
! Fever ! Splenomegaly ! Cytopenia =>2 cell lines
! Hemoglobin <90 g/l (below 4 weeks <120 g/l) ! Platelets <100×109/l ! Neutrophils <1×109/l
! Hypertriglyceridemia and/or hypofibrinogenemia ! Fasting triglycerides => ! Fibrinogen <1.5 g/l ! Ferritin =>500 µg/l ! sCD 25=>2,400 U/ml§ ! Decreased or absent NK-cell activity ! Hemophagocytosis in bone marrow, CSF, or lymph nodes: not
necesarry for the diagnosis
Clinical criteria HLH
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Familial hemophagocytic lymphohistiocytosis
Familial hemophagocytic lymphohistiocytosis
Ø Treatment: HLH-2004 protocol (dexamethason, cyclosporin and etoposide Ø HSCT
Ravelli et al. Genes and immunity 2012
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Genetic HLH
Gene Protein Chromosome
Familial Hemophagocytic lymphohistiocytic syndrome (FHL)
FHL-1 FHL-2 FHL-3 FHL-4 FHL-5
Unknown PFR1
UNC13D STX11
STXBP2(UNC18B)
Unknown Perforin
Munc13-4 Syntaxin11 Munc18-2
9q21.3-q22 10q21-22
17q25 6q24
19p13.2-3
Immunodeficiency syndromes Chediak-Higashi syndrome Griscelli syndrome 2 X-linked proliferative syndrome type-1 X-linked proliferative syndrome type-2
LYST RAB27A SH2D1A BIRC4
Lyst Rab27a
SAP XIAP
1q42.1-q42.2 15q21 Xq25 xq25
Other immune defects and HLH Hermansky- Pudlak syndrome 2 SCID ITK deficiency CD27 deficiency
Acquired HLH Infectious agents Autoinflammatory and autoimmune disease (MAS) Malignant disease Immunosuppression Metabolic disease
Familial hemophagocytic lymphohistiocytosis
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! Early childhood: recurrent URTI (otitis, sinusitis) ! 5 y: unilateral pneumonia ! 6 y: Pneumococcal meningo-encephalitis + pneumonia,
general seizures, mydriasis ! 6,5 y: Pneumococcal meningitis
Maxim, 7 years History
Normal immune system ?
Investigations?
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! WBC: 9140/µl (neutro: 4530/µl - lymfo: 3330/µl) ! Cellular adaptive immune system
! CD3+: 2100/µl ! CD3+/CD4+: 1170/µl ! CD3+/CD8+: 566/µl
! Humoral adaptive immune system ! CD19+: 866/µl ! Total IgG: 6,9 g/l IgG2: 1,54 g/l IgG3: 0,59 g/l ! IgA: 0,9 g/l ! IgM: 0,5 g/l ! Good response to Pneumo 23 vaccin (polysaccharide Ab) ! Immune for tetanus
Maxim, 7 years Investigations
Ab: antibodies
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! Opsonisation by - complement factors - IgG2 - specific pneumococcal Ab ! Phagocytosis by macrophages/neutrophils ! Spleen: clearing of opsonized bacteria
?? normal
normal
Spleen = present and functional
??
Streptococcus Pneumoniae Defense
FcR: Fc receptor; CR: complement receptor; MAC: membrane attack complex; Ab: antibodies
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Complement system – Investigation
First tests C3 C4 CH50 AP50 MBL
CH50 MBL AP50
C3
C4
COMMON TERMINAL PATHWAY
Ab-Ag, virus, CRP Carbohydrates LPS, Zymosan
MBL: mannose binding lectin
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Maxim, 7 years Investigations
COMPLEMENT SYSTEM C3 (0,9 – 1,8 g/l) 1,4 g/l C4 (0,1 – 0,4 g/l) 0,2 g/l CH50 (23 – 46 U/ml) 2 U/ml AP50 (30 – 113 %) 78 % MBL (750 – 2750 ng/ml) 2614 ng/ml C2 concentration (1,4 – 2,5 mg/dl) <0,17 mg/dl C2 functional test (16-91%) pending C1q pending
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Maxim, 7 years
! Congenital complement factor C2 deficiency
Diagnosis
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Maxim, 7 years
Clinical implications
! Increased susceptibility to acute fulminant bacterial infections ! >> Encapsulated bacteria (S. pneumoniae, N. meningitidis, H.
influenzae type 2, …)
! R/ chronic AB prophylaxis, vaccinations
! Increased susceptibility to auto-immune diseases ! >> SLE ! Nephrologic disease
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47 47 © 2010 Universitair Ziekenhuis Gent Bousfiha JCI 2013
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Conclusion
! Onset: children – first symptons: ADULTS
! Suspect PID when: - frequent / chronic infections - severe presentation - hematological abnormalities after exclusion of malignancy
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https://clinicalimmunology.ugent.be www.uzgent.be/nl/zorgaanbod/mdteams/primaire-immuunstoornissen