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1.

Familial hemophagocytic lymphohistiocytosis

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth. [from ORDO]

MedGen UID:
830907
Concept ID:
CN205265
Disease or Syndrome
2.

Immunodeficiency

MedGen UID:
505335
Concept ID:
CN002471
Finding
3.

Hemophagocytic lymphohistiocytosis

MedGen UID:
441170
Concept ID:
CN072807
Disease or Syndrome
4.

X-linked lymphoproliferative syndrome 2

X-linked lymphoproliferative disease (XLP) is caused by mutations in SH2D1A and XIAP (BIRC4). XLP may also occur in rare instances with no identified underlying genetic cause. The three most commonly recognized phenotypes of SH2D1A-related XLP are hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection (58% of individuals), dysgammaglobulinemia (31%), and lymphoproliferative disorders (malignant lymphoma) (30%). Manifestations of SH2D1A-related XLP, including HLH, can also occur in the absence of EBV. XIAP-related XLP also presents with HLH (often associated with EBV) or dysgammaglobulinemia, but no cases of lymphoma have been described to date. HLH resulting from EBV infection, sometimes referred to as severe infectious mononucleosis, is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Fulminant hepatitis, hepatic necrosis, and profound bone marrow failure are typical, resulting in mortality that is higher than 90%, though prompt recognition of the disorder and aggressive treatment interventions likely improve survival. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The prognosis is improved if affected males are managed with regular intravenous immunoglobulin (IVIG) therapy. The malignant lymphomas are typically high-grade B cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine. [from GeneReviews]

MedGen UID:
336848
Concept ID:
C1845076
Disease or Syndrome
5.

X-Linked Lymphoproliferative Syndrome

An X-linked immunodeficiency syndrome that exclusivesly affects males, although females can be carriers. The syndrome is characterized by life-threatening episodes of infectious mononucleosis, hypogammaglobulinemia, and subsequent development of lymphomas (usually B-cell lymphomas) and other lymphoproliferative disorders. [from NCI]

MedGen UID:
107498
Concept ID:
C0549463
Neoplastic Process
6.

Familial hemophagocytic lymphohistiocytosis

Familial hemophagocytic lymphohistiocytosis (FHL) is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes manifesting as acute illness with prolonged fever, cytopenias, and hepatosplenomegaly. Onset is typically within the first months or years of life and, on occasion, in utero, although later childhood or adult onset is more common than previously suspected. Neurologic abnormalities may be present initially or may develop later; they may include increased intracranial pressure, irritability, neck stiffness, hypotonia, hypertonia, convulsions, cranial nerve palsies, ataxia, hemiplegia, quadriplegia, blindness, and coma. Rash and lymphadenopathy are less common. Other findings include liver dysfunction and bone marrow hemophagocytosis. The median survival of children with typical FHL, without treatment, is less than two months; progression of hemophagocytic lymphohistiocytosis and infection account for the majority of deaths in untreated individuals. [from GeneReviews]

MedGen UID:
78797
Concept ID:
C0272199
Disease or Syndrome
7.

X-linked inheritance

MedGen UID:
66838
Concept ID:
C0241764
8.

Immunodeficiency disorder

Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral. [from NCI]

MedGen UID:
7034
Concept ID:
C0021051
Disease or Syndrome
9.

Lymphoproliferative Disorder

A disorder characterized by proliferation of lymphocytes at various stages of differentiation. Lymphoproliferative disorders can be neoplastic (clonal, as in lymphomas and leukemias) or reactive (polyclonal, as in infectious mononucleosis). [from NCI]

MedGen UID:
6162
Concept ID:
C0024314
Neoplastic Process
10.

Lymphohistiocytosis, Hemophagocytic

A group of related disorders characterized by LYMPHOCYTOSIS; HISTIOCYTOSIS; and hemophagocytosis. The two major forms are familial and reactive. [from MeSH]

MedGen UID:
6158
Concept ID:
C0024291
Disease or Syndrome
11.

Lymphoma

Lymphoma is a cancer of a part of the immune system called the lymphatic system. There are many types of lymphoma. One type is called Hodgkin disease. The rest are called non-Hodgkin lymphoma. . Non-Hodgkin lymphomas begin when a type of white blood cell, called a T cell or B cell, becomes abnormal. The cell divides again and again, making more and more abnormal cells. These abnormal cells can spread to almost any other part of the body. Most of the time, doctors can't determine why a person gets non-Hodgkin lymphoma. . Non-Hodgkin lymphoma can cause many symptoms, such as : -Swollen, painless lymph nodes in the neck, armpits or groin. -Unexplained weight loss . -Fever . -Soaking night sweats . -Coughing, trouble breathing or chest pain . -Weakness and tiredness that don't go away . -Pain, swelling or a feeling of fullness in the abdomen . Your doctor will perform an exam and lab tests to determine if you have lymphoma. NIH: National Cancer Institute.  [from MedlinePlus]

MedGen UID:
44223
Concept ID:
C0024299
Neoplastic Process
12.

Protein Deficiency

A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406) [from MeSH]

MedGen UID:
18705
Concept ID:
C0033626
Disease or Syndrome
13.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
14.

Infancy

From 4 weeks to 23 months of life. [from ORDO]

MedGen UID:
832100
Concept ID:
CN227393
Disease or Syndrome
15.

disease

An alteration of health status resulting from a physiopathological mechanism, and having a homogeneous clinical presentation and evolution and homogeneous therapeutic possibilities. Excludes developmental anomalies. [from ORDO]

MedGen UID:
798428
Concept ID:
CN204926
Disease or Syndrome
16.

Lymphoma

A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. [from HPO]

MedGen UID:
505322
Concept ID:
CN002422
Finding
17.

X-linked lymphoproliferative syndrome 1

X-linked lymphoproliferative disease (XLP) is caused by mutations in SH2D1A and XIAP (BIRC4). XLP may also occur in rare instances with no identified underlying genetic cause. The three most commonly recognized phenotypes of SH2D1A-related XLP are hemophagocytic lymphohistiocytosis (HLH) associated with Epstein-Barr virus (EBV) infection (58% of individuals), dysgammaglobulinemia (31%), and lymphoproliferative disorders (malignant lymphoma) (30%). Manifestations of SH2D1A-related XLP, including HLH, can also occur in the absence of EBV. XIAP-related XLP also presents with HLH (often associated with EBV) or dysgammaglobulinemia, but no cases of lymphoma have been described to date. HLH resulting from EBV infection, sometimes referred to as severe infectious mononucleosis, is associated with an unregulated and exaggerated immune response with widespread proliferation of cytotoxic T cells, EBV-infected B cells, and macrophages. Fulminant hepatitis, hepatic necrosis, and profound bone marrow failure are typical, resulting in mortality that is higher than 90%, though prompt recognition of the disorder and aggressive treatment interventions likely improve survival. Dysgammaglobulinemia is typically hypogammaglobulinemia of one or more immunoglobulin subclasses. The prognosis is improved if affected males are managed with regular intravenous immunoglobulin (IVIG) therapy. The malignant lymphomas are typically high-grade B cell lymphomas, non-Hodgkin type, often extranodal, and in particular involving the intestine. [from GeneReviews]

MedGen UID:
358381
Concept ID:
C1868674
Disease or Syndrome
18.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
19.

Lymphatism

MedGen UID:
141817
Concept ID:
C0524631
Disease or Syndrome
20.

Lymphadenopathy

A clinical finding indicating that a lymph node is enlarged. Causes include viral and bacterial infections and cancers that affect the lymph nodes. [from NCI]

MedGen UID:
96929
Concept ID:
C0497156
Finding

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