Immunodeficiency, and Sepsis

Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.

FAMILIAL ISOLATED CONGENITAL ASPLENIA Is also known as splenic hypoplasia|asplenia, familial|hyposplenia, isolated congenital

• Fever
• Vomiting
• Immunodeficiency
• Abnormality of metabolism/homeostasis
• Sepsis

SOURCES: OMIM ORPHANET MESH MENDELIAN

Interleukin-1 receptor-associated kinase-4 (IRAK-4) deficiency is an immunodeficiency associated with increased susceptibility to invasive infections caused by pyogenic bacteria.

IMMUNODEFICIENCY DUE TO INTERLEUKIN-1 RECEPTOR-ASSOCIATED KINASE-4 DEFICIENCY Is also known as irak4d|irak4 deficiency

• Neoplasm
• Immunodeficiency
• Recurrent infections
• Pneumonia
• Neutropenia

SOURCES: MESH OMIM ORPHANET MENDELIAN

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

COMBINED IMMUNODEFICIENCY DUE TO PARTIAL RAG1 DEFICIENCY Is also known as combined immunodeficiency with expansion of gamma delta t cells|cid due to partial rag1 deficiency|cid with expansion of gamma delta t cells

• Anemia
• Splenomegaly
• Immunodeficiency
• Autoimmunity
• Sepsis

SOURCES: MESH OMIM ORPHANET MENDELIAN

IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA Is also known as immunodeficiency, isolated|immunodeficiency, pure

• Anemia
• Immunodeficiency
• Pneumonia
• Hemolytic anemia
• Sepsis

SOURCES: OMIM MESH MENDELIAN

Mannose-binding lectin (MBL) deficiency, defined as MBL protein level of less than 100 ng/ml, is present in about 5% of people of European descent and in about 10% of sub-Saharan Africans. Most MBL-deficient adults appear healthy, but low levels of MBL are associated with increased risk of infection in toddlers, in cancer patients undergoing chemotherapy, and in organ-transplant patients receiving immunosuppressive drugs, particularly recipients of liver transplants (review by Degn et al., 2011). MBL is a soluble molecule that can activate the lectin pathway of the complement system; deficiency may thus lead to defects in the complement system (summary by Garcia-Laorden et al., 2008). Genetic Heterogeneity of Lectin Complement Activation Pathway DefectsSee also LCAPD2 (OMIM ), caused by variation in the MASP2 gene (OMIM ) on chromosome 1p36, and LCAPD3 (OMIM ), caused by variation in the FCN3 gene (OMIM ) on chromosome 1p36.

MANNOSE-BINDING LECTIN DEFICIENCY; MBLD Is also known as mbl deficiency|mbl2 deficiency|lcapd1|mannose-binding protein deficiency|mbp deficiency|lectin complement activation pathway, defect in, 1

• Neoplasm
• Failure to thrive
• Diarrhea
• Immunodeficiency
• Recurrent infections

SOURCES: MESH OMIM MENDELIAN

Severe combined immunodeficiency due to IKK2 deficiency is a rare, genetic form of primary immunodeficiency characterized by life-threatening bacterial, fungal and viral infections with the onset in infancy, and failure to thrive. Typically, hypogammaglobulinemia or agammaglobulinemia and normal levels of T and B cells are present.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO IKK2 DEFICIENCY Is also known as scid due to ikk2 deficiency

• Failure to thrive
• Diarrhea
• Immunodeficiency
• Pneumonia
• Respiratory tract infection

SOURCES: OMIM ORPHANET MENDELIAN

AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4 Is also known as agammaglobulinemia, autosomal recessive, due to blnk defect

• Diarrhea
• Immunodeficiency
• Pneumonia
• Neutropenia
• Sepsis

SOURCES: OMIM MENDELIAN

COMBINED IMMUNODEFICIENCY DUE TO TFRC DEFICIENCY Is also known as cid due to tfrc deficiency|tfrc-related combined immunodeficiency

• Failure to thrive
• Anemia
• Diarrhea
• Immunodeficiency
• Recurrent infections

SOURCES: OMIM ORPHANET MENDELIAN

Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder.

LEUKOCYTE ADHESION DEFICIENCY TYPE III Is also known as lad-1 variant|lad1v|leukocyte adhesion deficiency 1 variant|lad-iii|leukocyte adhesion deficiency-1 variant|iadd|leukocyte adhesion deficiency 3|integrin activation deficiency disease

• Pain
• Anemia
• Hepatomegaly
• Splenomegaly
• Immunodeficiency

SOURCES: MESH OMIM ORPHANET MENDELIAN

IMMUNODEFICIENCY 43; IMD43 Is also known as beta-2-microglobulin deficiency|b2m deficiency|hypoproteinemia, hypercatabolic

• Immunodeficiency
• Recurrent respiratory infections
• Diabetes mellitus
• Proteinuria
• Sepsis

SOURCES: OMIM MESH MENDELIAN